BBS7 c.1842G>T ;(p.E614D)

Variant ID: 4-122749605-C-A

NM_176824.2(BBS7):c.1842G>T;(p.E614D)

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:

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Frontiers In Endocrinology
Wang, Yi Y; Qin, Miao M; Fan, Lijun L; Gong, Chunxiu C
Publication Date: 2022

Variant appearance in text: BBS7: 1842G>T; Glu614Asp
PubMed Link: 35669683
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page