ABCA1 c.2377T>C ;(p.Y793H)

Variant ID: 9-107588129-A-G

NM_005502.3(ABCA1):c.2377T>C;(p.Y793H)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration
Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R
Publication Date: 2022-01-09

Variant appearance in text: ABCA1: 2377T>C; Tyr793His
PubMed Link: 35000612
Variant Present in the following documents:
  • Main text
View BVdb publication page


Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration
Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R
Publication Date: 2022-01-09

Variant appearance in text: ABCA1: 2377T>C; Tyr793His
PubMed Link: 35000612
Variant Present in the following documents:
  • Main text
View BVdb publication page