Full data view for gene TMPRSS3

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

9 entries on 1 page. Showing entries 1 - 9.
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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.916G>A r.(?) p.(Ala306Thr) Parent #1 - likely pathogenic g.43802210C>T g.42382101C>T - - TMPRSS3_000002 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.916G>A r.(?) p.(Ala306Thr) Unknown - pathogenic g.43802210C>T g.42382101C>T TMPRSS3(NM_024022.2):c.916G>A (p.A306T) - TMPRSS3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.916G>A r.(?) p.(Ala306Thr) Unknown - pathogenic g.43802210C>T g.42382101C>T TMPRSS3(NM_024022.2):c.916G>A (p.A306T) - TMPRSS3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.916G>A r.(?) p.(Ala306Thr) Parent #1 - pathogenic g.43802210C>T g.42382101C>T - - TMPRSS3_000002 - MORL Deafness Variation Database, PubMed: Weegerink 2011, PubMed: Schrauwen 2013, PubMed: Shearer 1993, PubMed: Chung 2014, PubMed: Elbracht 2007, PubMed: Lee 2013, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Weegerink 2011, PubMed: Schrauwen 2013, PubMed: Shearer 1993, PubMed: Chung 2014, PubMed: Elbracht 2007, PubMed: Lee 2013, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.916G>A r.(?) p.(Ala306Thr) Parent #1 - pathogenic g.43802210C>T g.42382101C>T - - TMPRSS3_000002 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs181949335 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.916G>A r.(?) p.(Ala306Thr) Unknown ACMG pathogenic (recessive) g.43802210C>T - - - TMPRSS3_000002 - PubMed: Batissoco 2021 ClinVar-SCV001792228 - Germline yes - - - - DNA SEQ-NG - - HL T1 PubMed: Batissoco 2021 - F no Brazil - - - - - 3 Karina Lezirovitz Mandelbaum
+/. - c.916G>A r.(?) p.(Ala306Thr) Parent #2 ACMG pathogenic (recessive) g.43802210C>T - - - TMPRSS3_000002 - PubMed: Batissoco 2021 ClinVar-SCV001792228 - Germline yes - - - - DNA SEQ - - HL - PubMed: Batissoco 2021 - M no Brazil - - - - - 2 Karina Lezirovitz Mandelbaum
+/. - c.916G>A r.(?) p.(Ala306Thr) Parent #2 ACMG pathogenic (recessive) g.43802210C>T - - - TMPRSS3_000002 - PubMed: Batissoco 2021 ClinVar-SCV001792228 - Germline yes - - - - DNA SEQ - - HL - PubMed: Batissoco 2021 - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+/. - c.916G>A r,(?) p.(Ala306Thr) Parent #1 - pathogenic (recessive) g.43802210C>T g.42382101C>T - - TMPRSS3_000002 combination of alleles not reported PubMed: Wu 2019 - - Germline - 2/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 2 Johan den Dunnen
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