ABCA1 c.3948C>A ;(p.S1316=)

Variant ID: 9-107574957-G-T

NM_005502.3(ABCA1):c.3948C>A;(p.S1316=)

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:

A mutation in transmembrane protein 135 impairs lipid metabolism in mouse eyecups.

Scientific Reports
Landowski, Michael M; Bhute, Vijesh J VJ; Takimoto, Tetsuya T; Grindel, Samuel S; Shahi, Pawan K PK; Pattnaik, Bikash R BR; Ikeda, Sakae S; Ikeda, Akihiro A
Publication Date: 2022-01-14

Variant appearance in text: ABCA1: S1316S
PubMed Link: 35031662
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4644.pdf
View BVdb publication page


A mutation in transmembrane protein 135 impairs lipid metabolism in mouse eyecups.

Scientific Reports
Landowski, Michael M; Bhute, Vijesh J VJ; Takimoto, Tetsuya T; Grindel, Samuel S; Shahi, Pawan K PK; Pattnaik, Bikash R BR; Ikeda, Sakae S; Ikeda, Akihiro A
Publication Date: 2022-01-14

Variant appearance in text: ABCA1: S1316S
PubMed Link: 35031662
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4644.pdf
View BVdb publication page