Individual #00000014

Reference Zilfalil B A et al. (2006)
Gender -
Geographic origin -
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CFTR
Owner name MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-21 10:22:59 +08:00 (CST)
Date last edited 2023-02-26 15:56:50 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000013 DNA PCR CFTR Not yet submitted MyHVP
0000000022 DNA PCR CFTR 1 MyHVP



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
7 Unknown ?/. g.117559592_117559594delCTT - Zilfalil B A et al. (2006) CFTR_000001 rs113993960 - - MyHVP CFTR 10 NM_000492.3:c.1521_1523delCTT - r.(?) p.(Phe508del) - -
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