GDF5 c.1458G>C ;(p.V486=)

Variant ID: 20-34021755-C-G

NM_000557.2(GDF5):c.1458G>C;(p.V486=)

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:

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: GDF5: V486V
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 2
  • srep30457-s2.xls, sheet 1
View BVdb publication page