USP44 c.116G>T ;(p.W39L)

Variant ID: 12-95927917-C-A

NM_032147.3(USP44):c.116G>T;(p.W39L)

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:

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Molecular Genetics & Genomic Medicine
Lin, Pei-Chin PC; Cheng, Chao-Neng CN; Huang, Hsi-Yuan HY; Tseng, Yu-Hsin YH; Chang, Ya-Sian YS; Lin, Chien-Yu CY; Chang, Jan-Gowth JG
Publication Date: 2020-05

Variant appearance in text: USP44: 116G>T; W39L
PubMed Link: 32160409
Variant Present in the following documents:
  • MGG3-8-e1220-s001.xlsx, sheet 1
View BVdb publication page