GPNMB c.719_720del ;(p.V240Dfs*24)

Variant ID: 7-23300090-TTG-T

NM_002510.2(GPNMB):c.719_720del;(p.V240Dfs*24)

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:

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.

American Journal Of Human Genetics
Yang, Chi-Fan CF; Lin, Shuan-Pei SP; Chiang, Chien-Ping CP; Wu, Yu-Hung YH; H'ng, Weng Siong WS; Chang, Chun-Ping CP; Chen, Yuan-Tsong YT; Wu, Jer-Yuarn JY
Publication Date: 2018-02-01

Variant appearance in text: GPNMB: 719_720del; Val240Aspfs
PubMed Link: 29336782
Variant Present in the following documents:
  • Main text
View BVdb publication page