Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (A)
Location

Chromosome 19:45766066 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM071084

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
19:g.45766066G>A
ENST00000622857.1:c.16-104C>T
ENST00000559756.1:n.1180+102G>A
ENST00000560160.1:c.632C>T
ENST00000560160.1:c.632C>T(p.=)
ENST00000560168.1:c.*1081C>T
ENST00000317578.6:c.1655C>T
ENSP00000316842.4:p.Thr552Met

Variant allele T
19:g.45766066G>T
ENST00000622857.1:c.16-104C>A
ENST00000559756.1:n.1180+102G>T
ENST00000560160.1:c.632C>A
ENSP00000453239.2:p.Asp211Glu
ENST00000560168.1:c.*1081C>A
ENST00000317578.6:c.1655C>A
ENSP00000316842.4:p.Thr552Lys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 46 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays