Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

-/TA | MAF: 0.16 (TA)

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


with COSMIC COSM1031043 (-/TA)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

About this variant

This variant overlaps 8 transcripts and has 1092 individual genotypes.

Variation displays