Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 6:10404562 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM110103, CM101897

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003220.2:c.710G>C, 33505

HGVS names

This variant has 42 HGVS names - Show

About this variant

This variant overlaps 36 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays