Original source

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

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

Chromosome 4:102885221 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS075098

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_001008388.1:c.109G>C, 17053

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays