Full data view for gene TMPRSS3

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 4 c.208del r.(?) p.(His70Thrfs*19) Unknown - pathogenic g.43809153del g.42389044del 208delC - TMPRSS3_000004 - PubMed: Baux 2017, Journal: Baux 2017 - rs727503493 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.208del r.(?) p.(His70ThrfsTer19) Unknown - pathogenic g.43809153del g.42389044del TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19) - TMPRSS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208del r.(?) p.(His70ThrfsTer19) Unknown - pathogenic g.43809153del g.42389044del TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19) - TMPRSS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.208del r.(?) p.(His70Thrfs*19) Parent #1 - pathogenic g.43809153del g.42389044del - - TMPRSS3_000004 - MORL Deafness Variation Database, PubMed: Weegerink 2011, PubMed: Kecmanovi? 2009, PubMed: Ahmed 2004, PubMed: Shearer 1993, PubMed: Lee 2012, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Weegerink 2011, PubMed: Kecmanovi? 2009, PubMed: Ahmed 2004, PubMed: Shearer 1993, PubMed: Lee 2012, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.208del r.(?) p.(His70Thrfs*19) Parent #1 - pathogenic (recessive) g.43809152del - - - TMPRSS3_000004 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL HL022 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.208del r.(?) p.(His70ThrfsTer19) Both (homozygous) - pathogenic (recessive) g.43809153del g.42389044del 208delC - TMPRSS3_000004 - PubMed: Wattenhofer 2002, PubMed: Naz 2017 - rs727503493 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-13 PubMed: Wattenhofer 2002, PubMed: Naz 2017 family, 5 affected - - Pakistan Punjab - - - - 5 Johan den Dunnen
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