Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 7:75933133 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10820, 2010_April_001_033_HSPB1_602195_0002

This variation has 8 HGVS names - click the plus to show

7:g.75933133C>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_248t1.1:c.379C>T
LRG_248p1.1:p.Arg127Trp

Genotyping chips

This variation has assays on: Illumina_1M-duo, Illumina_HumanOmni5

Variation displays