Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 13:110155300 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM090727

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001845.4:c.4738G>C, 965

HGVS names

This variant has 3 HGVS names - Hide

13:g.110155300C>G
ENST00000375820.8:c.4738G>C
ENSP00000364979.4:p.Gly1580Arg

About this variant

This variant overlaps 1 transcript, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays