Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 13:110192257 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM105982, CM076124

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001845.4:c.1493G>T, 961

This variant has 5 HGVS names - click the plus to show

13:g.110192257C>A
ENST00000375820.8:c.1493G>T
ENSP00000364979.4:p.Gly498Val
ENST00000543140.5:c.1493G>T
ENSP00000443348.1:p.Gly498Val

About this variant

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

Variant displays