Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: 0.10 (G)
Location

Chromosome 12:40263898 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM104618

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

12:g.40263898C>G
ENST00000343742.5:c.1653C>G
ENSP00000341930.2:p.Asn551Lys
ENST00000416796.4:c.897C>G
ENSP00000398726.1:p.Asn299Lys
ENST00000298910.10:c.1653C>G
ENSP00000298910.7:p.Asn551Lys

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 4028 individual genotypes, is associated with 1 phenotype and is mentioned in 6 citations.

Variation displays