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: < 0.01 (A)
Location

Chromosome 5:136055770 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981910

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 27 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 36 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays