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 7:76304099 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3640640 ; HGMD-PUBLIC CM056337 ; PhenCode IPNMDB_847 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_037_HSPB1_602195_0006, 10824

HGVS names

This variant has 9 HGVS names - Hide

7:g.76304099C>T
ENST00000248553.6:c.544C>T
ENSP00000248553.6:p.Pro182Ser
ENST00000447574.1:c.*708C>T
ENST00000429938.1:c.40C>T
ENSP00000405285.1:p.Pro14Ser
LRG_248:g.6542C>T
LRG_248t1:c.544C>T
LRG_248p1:p.Pro182Ser

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays