Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.44 (G)
Location

Chromosome 19:41858921 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002115

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

19:g.41858921G>A
ENST00000221930.5:c.29C>T
ENSP00000221930.4:p.Pro10Leu
ENST00000539627.1:c.-30+1814G>A
ENST00000604424.1:n.350+1814G>A

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays