GDF5 c.657G>A ;(p.K219=)

Variant ID: 20-34022556-C-T

NM_000557.2(GDF5):c.657G>A;(p.K219=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

European Journal Of Human Genetics : Ejhg
Yıldırım, Yeşerin Y; Ouriachi, Toufik T; Woehlbier, Ute U; Ouahioune, Wahiba W; Balkan, Mahmut M; Malik, Sajid S; Tolun, Aslıhan A
Publication Date: 2018-06

Variant appearance in text: GDF5: 657G>A
PubMed Link: 29581481
Variant Present in the following documents:
  • Main text
View BVdb publication page