Original source

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

-/TA|MAF: 0.17 (TA)

Chromosome 21: between 42383199 and 42383200 (forward strand)|View in location tab

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays