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 17:42796244 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM012652

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_032387.4:c.3553C>T, 10657

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays