Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V|MAF: 0.45 (G)
Location

Chromosome 19:41353016 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002115

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
19:g.41353016G>A
ENST00000221930.5:c.29C>T
ENSP00000221930.4:p.Pro10Leu
ENST00000604424.1:n.350+1814G>A
ENST00000539627.5:c.-30+1814G>A

Variant allele C
19:g.41353016G>C
ENST00000221930.5:c.29C>G
ENSP00000221930.4:p.Pro10Arg
ENST00000604424.1:n.350+1814G>C
ENST00000539627.5:c.-30+1814G>C

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2855 sample genotypes, is associated with 3 phenotypes and is mentioned in 198 citations.

Variant displays