Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: < 0.01 (G)
Location

Chromosome 4:38796880 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM114631

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003263.3:c.1952T>C

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays