CALR c.992_993del ;(p.L331Hfs*5)

Variant ID: 19-13054380-CCT-C

NM_004343.3(CALR):c.992_993del;(p.L331Hfs*5)

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:

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Molecular Vision
Chen, Yabin Y; Jia, Xiaoyun X; Wang, Panfeng P; Xiao, Xueshan X; Li, Shiqiang S; Guo, Xiangming X; Zhang, Qingjiong Q
Publication Date: 2013

Variant appearance in text: SSA: 991_992del
PubMed Link: 23401657
Variant Present in the following documents:
  • mv-v19-292.pdf
View BVdb publication page