Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/G/T | Ancestral: C | Ambiguity code: B | MAF: < 0.01 (G)
Location

Chromosome 7:76304007 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041375 ; PhenCode IPNMDB_403 (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_034_HSPB1_602195_0003, 10821

This variant has 16 HGVS names - click the plus to show

Variant allele T
7:g.76304007C>T
ENST00000248553.6:c.452C>T
ENSP00000248553.6:p.Thr151Ile
ENST00000447574.1:c.*616C>T
ENST00000429938.1:c.-53C>T
LRG_248:g.6450C>T
LRG_248t1:c.452C>T
LRG_248p1:p.Thr151Ile

Variant allele G
7:g.76304007C>G
ENST00000248553.6:c.452C>G
ENSP00000248553.6:p.Thr151Ser
ENST00000447574.1:c.*616C>G
ENST00000429938.1:c.-53C>G
LRG_248:g.6450C>G
LRG_248t1:c.452C>G
LRG_248p1:p.Thr151Ser

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays