Full data view for gene PTHLH

Information The variants shown are described using the NM_198965.1 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/. _1_5_ c.(?_-30)_(*220_?)del r.0 p.0 Parent #1 - pathogenic g.(?_28111491)_(28122427_?)del - - - PTHLH_000001 - PubMed: Klopocki 2010, DECIPHER:BER251557 - - Germline yes - - - - DNA PCRq, SEQ - - BDE2 - PubMed: Klopocki 2010, DECIPHER:BER251557 5-generation family, 27 affecteds (14F, 13M) F;M - - European - - - - 27 Johan den Dunnen
?/. - c.-23+2T>C r.(?) p.(?) Unknown - VUS g.28122956A>G - - - PTHLH_000014 - - - rs761025088 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-23+2T>C r.(?) p.(?) Unknown - VUS g.28122956A>G - - - PTHLH_000014 - - - rs761025088 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.22C>T r.(?) p.(Gln8*) Unknown - pathogenic g.28122406G>A - - - PTHLH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25T>C r.(?) p.(Trp9Arg) Unknown - pathogenic g.28122403A>G g.27969470A>G PTHLH(NM_198966.1):c.25T>C (p.W9R) - PTHLH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.44T>G r.(?) p.(Leu15Arg) Maternal (confirmed) - pathogenic g.28122384A>C g.27969451A>C - - PTHLH_000006 - PubMed: Wang 2015 - - Germline yes - - - - DNA SEQ - - BDE2 - PubMed: Wang 2015 3-generation family, 7 affecteds (5F, 2M) F;M no China - - - - - 7 Guiomar Perez de Nanclares
+/+? 3 c.44T>G r.(?) p.Leu15Arg Unknown - NA g.28122384A>C g.27969451A>C - - PTHLH_000006 cDNA expression cloning in HEK293 cells shows affected signal peptide cleavage PubMed: Wang 2015 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3_3i c.47_101+73del r.spl? p.? Maternal (confirmed) - likely pathogenic g.28122258_28122385del g.27969325_27969452del 47_101+73del128 - PTHLH_000007 - PubMed: Thomas-Teinturier et al. 2016 - - Germline yes - - - - DNA SEQ blood - BDE2 - PubMed: Thomas-Teinturier 2016 2-generation family, 2 affected (proband: daughter; mother) F no (France) - - - - - 2 Arrate Pereda
+?/. 3i c.101+3_101+6del r.spl? p.? Unknown - likely pathogenic g.28122323_28122326del g.27969390_27969393del - - PTHLH_000010 de novo in patient PubMed: Thomas-Teinturier et al. 2016 - - De novo yes - - - - DNA SEQ peripheral blood - BDE2 - PubMed: Thomas-Teinturier 2016 Sporadic patient F no Spain European - - - - 1 Arrate Pereda
+?/+? 4i c.102-3A>G r.spl? p.? Unknown - likely pathogenic g.28116706T>C g.27963773T>C - - PTHLH_000013 - NOT DESCRIBED - - Unknown yes - - - - DNA SEQ complete blood - BD - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) F ? - - - - - - 2 Arrate Pereda
+?/+? 4i c.102-3A>G r.spl? p.? Maternal (confirmed) - likely pathogenic g.28116706T>C g.27963773T>C - - PTHLH_000013 - NOT DESCRIBED - - Germline yes - - - - DNA SEQ complete blood - BD - - - M ? - - - - - - 1 Arrate Pereda
+/. 4 c.131T>C r.(?) p.(Leu44Pro) Parent #1 - pathogenic g.28116674A>G g.27963741A>G L44P - PTHLH_000002 - PubMed: Klopocki 2010, DECIPHER:BER251557 - - Germline - - - - - DNA SEQ - - BDE2 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 1 affected F - - European - - - - 1 Johan den Dunnen
+?/. 4 c.166C>T r.(?) p.(Arg56*) Unknown - likely pathogenic g.28116639G>A g.27963706G>A - - PTHLH_000009 - PubMed: Jamsheer et al. 2016 - - De novo - - - - - DNA SEQ peripheral blood - BDE2 - PubMed: Jamsheer 2016 Sporadic patient F - (Poland) - - - - - 1 Arrate Pereda
+?/. 4 c.166C>T r.(?) p.(Arg56*) Paternal (confirmed) - likely pathogenic g.28116639G>A g.27963706G>A - - PTHLH_000009 paternally inherited (healthy mosaic father) - - - Germline - - - - - DNA SEQ peripheral blood - BDE2 - - - F no (Spain) white - - - - 1 Arrate Pereda
?/. - c.167G>A r.(?) p.(Arg56Gln) Unknown - VUS g.28116638C>T - PTHLH(NM_002820.3):c.167G>A (p.R56Q) - PTHLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.179T>C r.(?) p.(Leu60Pro) Parent #1 - pathogenic g.28116626A>G g.27963693A>G L60P - PTHLH_000003 - PubMed: Klopocki 2010, DECIPHER:BER251557 - - Germline - - - - - DNA SEQ - - BDE2 - PubMed: Klopocki 2010, DECIPHER:BER251557 2-generation family, 1 affected F - - European - - - - 1 Johan den Dunnen
+?/. 4 c.258del r.(?) p.(Asn87Thrfs*18) Paternal (confirmed) - likely pathogenic g.28116549del g.27963616del - - PTHLH_000008 - PubMed: Jamsheer et al. 2016 - - Germline yes - - - - DNA SEQ peripheral blood - BDE2 - PubMed: Jamsheer 2016 2-generation family, 3 affecteds (2 sisters, father) F;M - (Poland) - - - - - 3 Arrate Pereda
+/. 4 c.358A>T r.(?) p.(Lys120*) Parent #1 - pathogenic g.28116447T>A g.27963514T>A T>C (K120X) - PTHLH_000005 - PubMed: Klopocki 2010, DECIPHER:BER251557 - - Germline yes - - - - DNA SEQ - - BDE2 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - - - - 3 Johan den Dunnen
-?/. - c.434C>T r.(?) p.(Ser145Phe) Unknown - likely benign g.28116371G>A - PTHLH(NM_198965.2):c.434C>T (p.(Ser145Phe)) - PTHLH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441G>A r.(?) p.(Trp147Ter) Unknown - pathogenic g.28116364C>T g.27963431C>T PTHLH(NM_198966.1):c.441G>A (p.W147*) - PTHLH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.534A>G r.(?) p.(*178Trpext*53) Parent #1 - pathogenic g.28111492T>C g.27958559T>C X178WextX54 - PTHLH_000004 - PubMed: Klopocki 2010, DECIPHER:BER251557 - - Germline yes - - - - DNA SEQ - - BDE2 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - - - - 3 Johan den Dunnen
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