Original source

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

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

Chromosome 9:133639848 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020268

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

Variant allele A
9:g.133639848C>A
ENST00000263611.2:c.298-2359C>A
ENST00000393056.6:c.342C>A
ENSP00000376776.2:p.Asp114Glu

Variant allele T
9:g.133639848C>T
ENST00000263611.2:c.298-2359C>T
ENST00000393056.6:c.342C>T
ENST00000393056.6:c.342C>T(p.=)

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays