Full data view for gene TMPRSS3

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

10 entries on 1 page. Showing entries 1 - 10.
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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.1276G>A r.(?) p.(Ala426Thr) Parent #2 - likely pathogenic g.43795896C>T g.42375787C>T - - TMPRSS3_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/. 12 c.1276G>A r.(?) p.(Ala426Thr) Unknown - pathogenic g.43795896C>T g.42375787C>T - - TMPRSS3_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs56264519 Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1802 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+?/. - c.1276G>A r.(?) p.(Ala426Thr) Unknown - likely pathogenic g.43795896C>T g.42375787C>T TMPRSS3(NM_024022.2):c.1276G>A (p.A426T) - TMPRSS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1276G>A r.(?) p.(Ala426Thr) Unknown - likely pathogenic g.43795896C>T g.42375787C>T TMPRSS3(NM_024022.2):c.1276G>A (p.A426T) - TMPRSS3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1276G>A r.(?) p.(Ala426Thr) Parent #1 - pathogenic g.43795896C>T g.42375787C>T - - TMPRSS3_000001 - MORL Deafness Variation Database, PubMed: Weegerink 2011, PubMed: Wattenhofer 2002, PubMed: Shearer 1993, PubMed: Richards 2015, PubMed: Lee 2003, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Weegerink 2011, PubMed: Wattenhofer 2002, PubMed: Shearer 1993, PubMed: Richards 2015, PubMed: Lee 2003, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1276G>A r.(?) p.(Ala426Thr) Parent #1 - likely pathogenic g.43795896C>T g.42375787C>T - - TMPRSS3_000001 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56264519 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1276G>A r.(?) p.(Ala426Thr) Unknown - likely pathogenic g.43795896C>T - - - TMPRSS3_000001 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB S1670 PubMed: Baux 2017 proband M - France - - - - - 1 Anne-Françoise Roux
+/. - c.1276G>A r.(?) p.(Ala426Thr) Parent #1 ACMG pathogenic (recessive) g.43795896C>T - - - TMPRSS3_000001 - PubMed: Batissoco 2021 ClinVar-SCV001792227 - Germline yes - - - - DNA SEQ-NG - - HL T1 PubMed: Batissoco 2021 - F no Brazil - - - - - 3 Karina Lezirovitz Mandelbaum
+/. - c.1276G>A r.(?) p.(Ala426Thr) Parent #1 ACMG pathogenic (recessive) g.43795896C>T - - - TMPRSS3_000001 - PubMed: Batissoco 2021 ClinVar-SCV001792227 - Germline yes - - - - DNA SEQ - - HL - PubMed: Batissoco 2021 - M no Brazil - - - - - 2 Karina Lezirovitz Mandelbaum
+/. - c.1276G>A r.(?) p.(Ala426Thr) Parent #1 ACMG pathogenic (recessive) g.43795896C>T - - - TMPRSS3_000001 - PubMed: Batissoco 2021 ClinVar-SCV001792227 - Germline yes - - - - DNA SEQ - - HL - PubMed: Batissoco 2021 - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
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