Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

-/TA | MAF: 0.17 (TA)

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


with COSMIC COSM1031043 (-/TA)

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays