Full data view for gene ACTN1

Information The variants shown are described using the NM_001102.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.94C>A r.(?) p.(Gln32Lys) Unknown - likely pathogenic g.69445680G>T - ACTN1(NM_001130004.1):c.94C>A (p.Q32K) - ACTN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.95A>G r.(?) p.(Gln32Arg) Unknown - likely pathogenic g.69445679T>C - - - ACTN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104A>G r.(?) p.(Lys35Arg) Unknown - VUS g.69445670T>C - - - ACTN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105+18C>T r.(=) p.(=) Unknown - likely benign g.69445651G>A - ACTN1(NM_001102.3):c.105+18C>T (p.(=)) - ACTN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113C>T r.(?) p.(Thr38Met) Unknown - VUS g.69392382G>A - - - ACTN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.673G>A r.(?) p.(Glu225Lys) Parent #1 - pathogenic g.69371375C>T g.68904658C>T - - ACTN1_000015 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387907350 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.676+6A>G r.(=) p.(=) Unknown - likely benign g.69371366T>C - ACTN1(NM_001130004.1):c.676+6A>G - ACTN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+12C>T r.(=) p.(=) Unknown - likely benign g.69360360G>A g.68893643G>A ACTN1(NM_001130004.1):c.855+12C>T - ACTN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+12_855+13insT r.(=) p.(=) Unknown - likely benign g.69360359_69360360insA - ACTN1(NM_001102.3):c.855+12_855+13insT (p.(=)) - ACTN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956A>C r.(?) p.(Tyr319Ser) Unknown - VUS g.69358900T>G g.68892183T>G - - ACTN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1019C>T r.(?) p.(Thr340Met) Unknown - likely pathogenic g.69358837G>A - - - ACTN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158C>A r.(?) p.(Ile386=) Unknown - likely benign g.69356932G>T g.68890215G>T ACTN1(NM_001102.3):c.1158C>A (p.(Ile386=)) - ACTN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1172G>A r.(?) p.(Arg391Gln) Unknown - VUS g.69356918C>T - ACTN1(NM_001130004.1):c.1172G>A (p.(Arg391Gln)) - ACTN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1234+1985A>C r.(=) p.(=) Unknown - VUS g.69354871T>G g.68888154T>G - - ACTN1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1234+2196A>C r.(=) p.(=) Unknown - VUS g.69354660T>G g.68887943T>G - - ACTN1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1235-2265G>C r.(=) p.(=) Unknown - VUS g.69354557C>G g.68887840C>G - - ACTN1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1235-2081T>A r.(=) p.(=) Unknown - VUS g.69354373A>T g.68887656A>T - - ACTN1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1235-1805del r.(=) p.(=) Unknown - VUS g.69354097del g.68887380del - - ACTN1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1235-1617G>A r.(=) p.(=) Unknown - VUS g.69353909C>T g.68887192C>T - - ACTN1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1761G>A r.(?) p.(Ala587=) Unknown - VUS g.69349647C>T g.68882930C>T - - ACTN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1856C>T r.(?) p.(Thr619Met) Unknown - likely benign g.69349272G>A - ACTN1(NM_001130004.1):c.1856C>T (p.T619M) - ACTN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1932C>T r.(?) p.(Pro644=) Unknown - likely benign g.69349196G>A - ACTN1(NM_001130004.1):c.1932C>T (p.P644=) - ACTN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2028G>A r.(?) p.(Lys676=) Unknown - likely benign g.69347632C>T g.68880915C>T ACTN1(NM_001102.3):c.2028G>A (p.(Lys676=)) - ACTN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2034C>T r.(?) p.(Ile678=) Unknown - likely benign g.69347626G>A - ACTN1(NM_001130004.1):c.2034C>T (p.I678=) - ACTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2102T>C r.(?) p.(Phe701Ser) Unknown - VUS g.69347558A>G g.68880841A>G - - ACTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2166C>T r.(?) p.(Thr722=) Unknown - likely benign g.69346793G>A g.68880076G>A ACTN1(NM_001130004.1):c.2166C>T (p.T722=) - ACTN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2212C>T r.(?) p.(Arg738Trp) Unknown - likely pathogenic g.69346747G>A - ACTN1(NM_001130004.1):c.2212C>T (p.R738W) - ACTN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2361+446G>T r.(=) p.(=) Unknown - likely benign g.69345260C>A - ACTN1(NM_001130004.1):c.2362-20G>T - ACTN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2597C>T r.(?) p.(Pro866Leu) Unknown - benign g.69341658G>A g.68874941G>A ACTN1(NM_001102.3):c.2597C>T (p.(Pro866Leu)), ACTN1(NM_001130004.1):c.2663C>T (p.P888L) - ACTN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2597C>T r.(?) p.(Pro866Leu) Unknown - likely benign g.69341658G>A g.68874941G>A ACTN1(NM_001102.3):c.2597C>T (p.(Pro866Leu)), ACTN1(NM_001130004.1):c.2663C>T (p.P888L) - ACTN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2602A>T r.(?) p.(Thr868Ser) Unknown - benign g.69341653T>A - ACTN1(NM_001130004.2):c.2668A>T (p.(Thr890Ser)) - ACTN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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