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 5:132384154 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002860

Most severe consequence
 
Missense variant
Evidence status

Synonyms

LSDB 11843

HGVS names

This variant has 9 HGVS names - Hide

5:g.132384154C>T
ENST00000245407.7:c.505C>T
ENSP00000245407.3:p.Arg169Trp
ENST00000437841.6:c.394-1174C>T
ENST00000435065.6:c.577C>T
ENSP00000402760.2:p.Arg193Trp
ENST00000461013.5:n.7927C>T
ENST00000415928.5:c.274C>T
ENSP00000388838.1:p.Arg92Trp

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays