ABCA4 c.943C>T ;(p.L315=)

Variant ID: 1-94546190-G-A

NM_000350.2(ABCA4):c.943C>T;(p.L315=)

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 study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09

Variant appearance in text: ABCA4: 943C>T
PubMed Link: 34313030
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1766.pdf
View BVdb publication page


A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Publication Date: 2021-09

Variant appearance in text: ABCA4: 943C>T
PubMed Link: 34313030
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1766.pdf
View BVdb publication page