Most severe consequence
 
Missense variant
Alleles
C/T|Ancestral: C|Highest population MAF: < 0.01
Location

Chromosome 14:73170945 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981649

Evidence status

Clinical significance

HGVS names

This variant has 39 HGVS names - Show

Synonyms

This variant has 6 synonyms - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 22 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Description from SNPedia

rs63749824, also known as c.236C>T, A79V or Ala79Val, is a SNP in the presenilin 1 PSEN1 gene.... Show

Variant displays