ABCA4 c.3027A>T ;(p.P1009=)

Variant ID: 1-94510192-T-A

NM_000350.2(ABCA4):c.3027A>T;(p.P1009=)

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:

An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: ABCA4: P1009P
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
View BVdb publication page


An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing.

Bmc Medical Genomics
Hutson, Nicholas N; Zhan, Fenglin F; Graham, James J; Murakami, Mitsuko M; Zhang, Han H; Ganaparti, Sujana S; Hu, Qiang Q; Yan, Li L; Ma, Changxing C; Liu, Song S; Xie, Jun J; Wei, Lei L
Publication Date: 2021-12-02

Variant appearance in text: ABCA4: P1009P
PubMed Link: 34856988
Variant Present in the following documents:
  • 12920_2021_880_MOESM1_ESM.xls, sheet 1
View BVdb publication page