PPP1R9A c.436T>C ;(p.F146L)

Variant ID: 7-94539861-T-C

NM_001166160.1(PPP1R9A):c.436T>C;(p.F146L)

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:

De novo MYH9 mutation in congenital scalp hemangioma.

Cold Spring Harbor Molecular Case Studies
Fomchenko, Elena I EI; Duran, Daniel D; Jin, Sheng Chih SC; Dong, Weilai W; Erson-Omay, E Zeynep EZ; Antwi, Prince P; Allocco, August A; Gaillard, Jonathan R JR; Huttner, Anita A; Gunel, Murat M; DiLuna, Michael L ML; Kahle, Kristopher T KT
Publication Date: 2018-08

Variant appearance in text: PPP1R9A: 436T>C; Phe146Leu
PubMed Link: 29903892
Variant Present in the following documents:
  • supp_mcs.a002998_Supplemental_Table2.xlsx, sheet 1
View BVdb publication page