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COL4A5 c.1948G>C ;(p.G650R)
Variant ID: X-107842100-G-C
NM_033380.2(
COL4A5
):c.1948G>C;(p.G650R)
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:
Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome.
Life (Basel, Switzerland)
Boeckhaus, Jan J; Strenzke, Nicola N; Storz, Celine C; Gross, Oliver O; On Behalf Of The Gpn Study Group, ; Early Pro-Tect Alport Investigators,
Publication Date: 2020-12-18
Variant appearance in text: COL4A5: 1948G>C; Gly650Arg
PubMed Link:
33352923
Variant Present in the following documents:
Main text
life-10-00360.pdf
View BVdb publication page