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COL4A5 c.3713G>A ;(p.G1238D)
Variant ID: X-107911657-G-A
NM_033380.2(
COL4A5
):c.3713G>A;(p.G1238D)
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:
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Orphanet Journal Of Rare Diseases
Zhang, Xiao X; Zhang, Yanqin Y; Zhang, Yanmei Y; Gu, Hongbo H; Chen, Zhe Z; Ren, Lei L; Lu, Xingxing X; Chen, Li L; Wang, Fang F; Liu, Yuhe Y; Ding, Jie J
Publication Date: 2018-12-22
Variant appearance in text: COL4A5: 3713G>A
PubMed Link:
30577881
Variant Present in the following documents:
Main text
13023_2018_Article_974.pdf
View BVdb publication page