This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
C/A/G/T|Ancestral: C|Ambiguity code: N|MAF: 0.08 (T)
Location

Chromosome 2:240868897 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM910014, CM093783, CD073566

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

Variant allele A
2:g.240868897C>A
ENST00000472436.1:n.52C>A
ENST00000307503.3:c.32C>A
ENSP00000302620.3:p.Pro11His

Variant allele T
2:g.240868897C>T
ENST00000472436.1:n.52C>T
ENST00000307503.3:c.32C>T
ENSP00000302620.3:p.Pro11Leu

Variant allele G
2:g.240868897C>G
ENST00000472436.1:n.52C>G
ENST00000307503.3:c.32C>G
ENSP00000302620.3:p.Pro11Arg

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 9 transcripts, has 2545 sample genotypes, is associated with 5 phenotypes and is mentioned in 6 citations.

Variant displays