Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 5:13754203 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM020274

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11779

HGVS names

This variant has 3 HGVS names - Hide

5:g.13754203C>G
ENST00000265104.4:c.10555G>C
ENSP00000265104.4:p.Gly3519Arg

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays