LDLR c.460del ;(p.Q154Sfs*52)

Variant ID: 19-11216040-TC-T

NM_000527.4(LDLR):c.460del;(p.Q154Sfs*52)

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:

Secondary findings in 421 whole exome-sequenced Chinese children.

Human Genomics
Chen, Wen W; Li, Wenke W; Ma, Yi Y; Zhang, Yujing Y; Han, Bianmei B; Liu, Xuewen X; Zhao, Kun K; Zhang, Meixian M; Mi, Jie J; Fu, Yuanyuan Y; Zhou, Zhou Z
Publication Date: 2018-09-14

Variant appearance in text: LDLR: 459delC
PubMed Link: 30217213
Variant Present in the following documents:
  • Main text
View BVdb publication page