Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.1181_1186+53del
Variant ID: 19-11222309-GGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCA-G
NM_000527.4(
LDLR
):c.1181_1186+53del
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: 1180_1187del
PubMed Link:
21534946
Variant Present in the following documents:
Main text
View BVdb publication page