Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 7:100629279 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM025301

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

7:g.100629279C>T
ENST00000465294.5:n.1112G>A
ENST00000473374.5:n.464-973G>A
ENST00000490084.5:c.*208G>A
ENST00000431692.5:c.*39G>A
ENST00000473963.1:n.420-973G>A
ENST00000476304.5:n.985G>A
ENST00000462107.1:c.1364G>A
ENSP00000420525.1:p.Arg455Gln
ENST00000223051.7:c.1364G>A
ENSP00000223051.3:p.Arg455Gln
ENST00000462090.5:n.255-973G>A

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2694 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays