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LDLR c.647G>T ;(p.C216F)
Variant ID: 19-11216229-G-T
NM_000527.4(
LDLR
):c.647G>T;(p.C216F)
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:
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Clinical Genetics
Lee, K K; Khan, S S; Islam, A A; Ansar, M M; Andrade, P B PB; Kim, S S; Santos-Cortez, R L P RL; Ahmad, W W; Leal, S M SM
Publication Date: 2012-07
Variant appearance in text: LDLR: 647G>T
PubMed Link:
21534946
Variant Present in the following documents:
Main text
View BVdb publication page