MPHOSPH9 c.2633C>T ;(p.S878L)

Variant ID: 12-123649983-G-A

NM_022782.3(MPHOSPH9):c.2633C>T;(p.S878L)

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 a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Medicine
Li, Xiaobin X; Wu, Yuling Y; Suo, Peisu P; Liu, Guifeng G; Li, Lifeng L; Zhang, Xiaoni X; Chen, Shifu S; Xu, Mingyan M; Song, Lele L
Publication Date: 2020-01

Variant appearance in text: MPHOSPH9: S878L
PubMed Link: 32000458
Variant Present in the following documents:
  • medi-99-e19076-s002.xlsx, sheet 1
View BVdb publication page