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 7:76303841 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM041373, CM108630 ; PhenCode IPNMDB_401 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10819, 2010_April_001_032_HSPB1_602195_0001

HGVS names

This variant has 8 HGVS names - Hide

7:g.76303841C>T
ENST00000248553.6:c.404C>T
ENSP00000248553.6:p.Ser135Phe
ENST00000447574.1:c.*568C>T
ENST00000429938.1:c.-101C>T
LRG_248:g.6284C>T
LRG_248t1:c.404C>T
LRG_248p1:p.Ser135Phe

About this variant

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

Variant displays