Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 7:76303816 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM041372 ; PhenCode IPNMDB_400 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10820, 2010_April_001_033_HSPB1_602195_0002

HGVS names

This variant has 8 HGVS names - Hide

7:g.76303816C>T
ENST00000248553.6:c.379C>T
ENSP00000248553.6:p.Arg127Trp
ENST00000447574.1:c.*543C>T
ENST00000429938.1:c.-126C>T
LRG_248:g.6259C>T
LRG_248t1:c.379C>T
LRG_248p1:p.Arg127Trp

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays