Original source

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

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

Chromosome 17:42787492 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012650

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_032387.4:c.1691A>C, 10656

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays