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GDF5 c.168C>A ;(p.N56K)
Variant ID: 20-34025541-G-T
NM_000557.2(
GDF5
):c.168C>A;(p.N56K)
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:
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs199666386
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs199666386
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page