Full data view for gene TMPRSS3

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

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

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     
+?/. 5 c.413C>A r.(?) p.(Ala138Glu) Both (homozygous) - likely pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 - PubMed: Baux 2017, Journal: Baux 2017 - rs147231991 Germline yes - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1541 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T g.42388436G>T TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T g.42388436G>T TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.413C>A r.(?) p.(Ala138Glu) Parent #1 - pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 - MORL Deafness Variation Database, PubMed: Hutchin 2005, PubMed: Eppsteiner 2012 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Hutchin 2005, PubMed: Eppsteiner 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.413C>A r.(?) p.(Ala138Glu) Parent #1 - likely pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147231991 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.413C>A r.(?) p.(Ala138Glu) Paternal (confirmed) ACMG pathogenic (recessive) g.43808545G>T - - - TMPRSS3_000003 - PubMed: Batissoco 2021 ClinVar-SCV001792230 - Germline yes - - - - DNA SEQ - - HL T2 PubMed: Batissoco 2021 - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T - TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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