BBS7 c.1451G>A ;(p.R484H)

Variant ID: 4-122756359-C-T

NM_176824.2(BBS7):c.1451G>A;(p.R484H)

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:

Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: BBS7: R484H
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page