Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 20:51788940 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061189

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2009_August_001_069_SALL4_607343_0012, 14795

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays