Full data view for gene ACTN3

Information The variants shown are described using the NM_001104.3 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.632G>A r.(?) p.? Unknown - likely benign g.66322675G>A - ACTN3(NM_001104.4):c.632G>A (p.(Arg211Gln)) - ACTN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992G>A r.(?) p.? Unknown - likely benign g.66325264G>A - ACTN3(NM_001104.4):c.992G>A (p.(Arg331Gln)) - ACTN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141G>A r.(?) p.? Unknown - VUS g.66325510G>A - ACTN3(NM_001104.4):c.1141G>A (p.A381T) - ACTN3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1240C>T r.(?) p.? Unknown - VUS g.66325609C>T - ACTN3(NM_001104.4):c.1240C>T (p.R414W) - ACTN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277-30G>A r.(?) p.(=) Both (homozygous) - VUS g.66326677G>A - - - ACTN3_000003 - PubMed: Melo 2015 - - Germline no - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES, WGS SPOAN patients PubMed: Melo 2015 73 patients F;M - Brazil - - - - - 73 Johan den Dunnen
?/. - c.1658A>G r.(?) p.? Unknown - VUS g.66327763A>G - ACTN3(NM_001258371.2):c.1787A>G (p.H596R) - CTSF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1689A>G r.(?) p.? Unknown - benign g.66328055A>G g.66560584A>G ACTN3(NM_001258371.2):c.1818A>G (p.T606=) - CTSF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #832 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #554 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #184LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #229LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #68LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #34LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #66LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #516 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #823 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #182LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #912 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #228 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #48LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #584 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG-I blood - DMD #378 PubMed: Luce 2021 - M no Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #800 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #273 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, PCRm - - DMD #430 - - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG blood - DMD #125 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #616 PubMed: Luce 2016, Journal: Luce 2016 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729= r.(?) p.(=) Both (homozygous) - association g.66328095T>C g.66560624= - - ACTN3_000002 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #67 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #874 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #69LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #52LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #94 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #263 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #879 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>A r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #137 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T 1747C>T - ACTN3_000001 variant not associated to a phenotype; reports Q523R variant (here wt) PubMed: North 1999, OMIM:var0001 - rs1815739 Germline - 5/5 individuals DdeI+ - - DNA PCRdig, SEQ - - alpha-actinin-3 deficiency - PubMed: North 1999 3-generation family, 5 homozygous individuals - - Australia - - - - - 5 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: North 1999, OMIM:var0001 - rs1815739 Germline yes 46/48 cases - - - DNA PCRdig - - alpha-actinin-3 deficiency - PubMed: North 1999 125 individuals with DNA and muscle biopsy - - Australia - - - - - 48 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: North 1999, OMIM:var0001 - rs1815739 Germline yes 53/77 controls - - - DNA PCRdig - - ? - PubMed: North 1999 - - - Australia - - - - - 53 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 no association with DMD phenotype PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 18/77 cases DdeI+ - - DNA PCRdig - - DMD - PubMed: Suminaga 2000 - M - Japan - - - - - 87 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 no association with DMD phenotype PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 43/87 cases DdeI+ - - DNA PCRdig - - DMD - PubMed: Suminaga 2000 - M - Japan - - - - - 87 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 no association with BMD phenotype PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 9/32 cases DdeI+ - - DNA PCRdig - - BMD - PubMed: Suminaga 2000 - M - Japan - - - - - 32 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 no association with BMD phenotype PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 16/32 cases DdeI+ - - DNA PCRdig - - BMD - PubMed: Suminaga 2000 - M - Japan - - - - - 32 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 9/30 controls DdeI+ - - DNA PCRdig - - Healthy/Control - PubMed: Suminaga 2000 30 healthy controls - - Japan - - - - - 30 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Suminaga 2000, OMIM:var0001 - - Germline - 16/30 controls DdeI+ - - DNA PCRdig - - Healthy/Control - PubMed: Suminaga 2000 30 healthy controls - - Japan - - - - - 30 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Yang 2003, OMIM:var0001 - - Germline - 80/436 controls - - - DNA PCR - - Healthy/Control - PubMed: Yang 2003 - - - Australia - - - - - 436 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Yang 2003, OMIM:var0001 - - Germline - 226/436 controls - - - DNA PCR - - Healthy/Control - PubMed: Yang 2003 - - - Australia - - - - - 436 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 reduced frequency F=0/35, M=6/72 (sprint/power), increased homozygous wt esp. in male (M=38/72, F=15/35) PubMed: Yang 2003, OMIM:var0001 - - Germline - 6/107 athletes (sprint/power) - - - DNA PCR - - ? - PubMed: Yang 2003 - - - Australia - - - - - 107 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 reduced frequency F=20/35, M=28/72 (sprint/power) PubMed: Yang 2003, OMIM:var0001 - - Germline - 48/107 athletes (sprint/power) - - - DNA PCR - - ? - PubMed: Yang 2003 - - - Australia - - - - - 107 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 increased frequency in athletes F=21/72, M=25/122 (compared to sprint/power) PubMed: Yang 2003, OMIM:var0001 - - Germline - 46/194 athletes (endurance) - - - DNA PCR - - ? - PubMed: Yang 2003 - - - Australia - - - - - 194 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 frequencies F=25/72, M=63/122 PubMed: Yang 2003, OMIM:var0001 - - Germline - 88/194 athletes (endurance) - - - DNA PCR - - ? - PubMed: Yang 2003 - - - Australia - - - - - 194 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Niemi 2005, OMIM:var0001 - - Germline - 11/120 controls - - - DNA PCRdig - - Healthy/Control - PubMed: Niemi 2005 - - - Finland - - - - - 120 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 - PubMed: Niemi 2005, OMIM:var0001 - - Germline - 55/120 controls DdeI+ - - DNA PCRdig - - Healthy/Control - PubMed: Niemi 2005 - - - Finland - - - - - 120 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 reduced frequency (0/33 top athletes, sprint) PubMed: Niemi 2005, OMIM:var0001 - - Germline - 6/68 athletes (sprint) DdeI+ - - DNA PCRdig - - ? - PubMed: Niemi 2005 - - - Finland - - - - - 68 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 12/33 top athletes (sprint) PubMed: Niemi 2005, OMIM:var0001 - - Germline - 27/68 athletes (sprint) DdeI+ - - DNA PCRdig - - ? - PubMed: Niemi 2005 - - - Finland - - - - - 68 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 increased frequency (3/20 top athletes, endurance) PubMed: Niemi 2005, OMIM:var0001 - - Germline - 4/40 athletes (endurance) - - - DNA PCRdig - - ? - PubMed: Niemi 2005 - - - Finland - - - - - 40 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 7/20 top athletes (endurance) PubMed: Niemi 2005, OMIM:var0001 - - Germline - 16/40 athletes (endurance) DdeI+ - - DNA PCRdig - - ? - PubMed: Niemi 2005 - - - Finland - - - - - 40 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Both (homozygous) - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 associates with increased 40m sprint time (6.13 vs 5.92 wt) PubMed: Moran 2007, OMIM:var0001 - - Germline - 93/507 controls - - - DNA TaqMan - - ? - PubMed: Moran 2007 - - - Greece - - - - - 507 Johan den Dunnen
+/. 15 c.1729C>T r.(?) p.(Arg577*) Parent #1 - pathogenic g.66328095= g.66560624C>T - - ACTN3_000001 associates with increased 40m sprint time (6.00 vs 5.92 wt) PubMed: Moran 2007, OMIM:var0001 - - Germline - 242/507 controls - - - DNA TaqMan - - ? - PubMed: Moran 2007 - - - Greece - - - - - 507 Johan den Dunnen
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #658 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #864 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #15LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #915 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #431 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #467 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #195LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #564 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #47LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #169LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #238LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #677 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #747 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #432 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #545 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #72LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #212LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #81LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #888 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #39LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD #132 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #420 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #283 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #184 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #523 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #13LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA PCRm - - DMD #171 - - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #186 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA, PCR BLOOD - MD #676 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #477 PubMed: Luce 2021 del-dup M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG-I blood WES DMD #626 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #507 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #294 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA BLOOD - MD #644 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG blood - DMD #64LP PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG-I Blood WES DMD #435 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Parent #1 - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA MLPA - - BMD/DMD #153 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
?/. 15 c.1729C>T r.(?) p.(Arg577Ter) Both (homozygous) - association g.66328095= g.66560624C>T - - ACTN3_000001 heterozygous T-allele associated with more severe phenotype PubMed: Luce 2024 - rs1815739 Germline - - - - - DNA SEQ-NG-I BLOOD - MD #853 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
-?/. - c.2166C>T r.(?) p.? Unknown - likely benign g.66329099C>T - ACTN3(NM_001258371.2):c.2295C>T (p.Y765=) - CTSF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*779A>C r.(=) p.(=) Unknown - likely pathogenic g.66331443A>C g.66563972A>C CTSF(NM_003793.4):c.1416T>G (p.C472W) - CTSF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*794A>G r.(=) p.(=) Unknown - benign g.66331458A>G g.66563987A>G CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=) - CTSF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*794A>G r.(=) p.(=) Unknown - benign g.66331458A>G g.66563987A>G CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=) - CTSF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.