BBS7 c.144C>T ;(p.G48=)

Variant ID: 4-122784393-G-A

NM_176824.2(BBS7):c.144C>T;(p.G48=)

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:

Endometrioid endometrial cancer "recurring" as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Hereditary Cancer In Clinical Practice
Jiang, Wei W; Gao, Tong T; Tao, Xiang X; Zhu, Menghan M; Yao, Liangqing L; Feng, Weiwei W
Publication Date: 2019

Variant appearance in text: BBS7: G48G
PubMed Link: 31139268
Variant Present in the following documents:
  • 13053_2019_112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page