Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 20:51788890 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM060468

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14794, 2009_August_001_068_SALL4_607343_0011

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