Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 5:151822915 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012968

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_000171.3:c.1108G>A

This variant has 6 HGVS names - click the plus to show

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays