ABCA1 c.2038A>T ;(p.I680F)

Variant ID: 9-107591274-T-A

NM_005502.3(ABCA1):c.2038A>T;(p.I680F)

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:

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Haematologica
Savola, Paula P; Martelius, Timi T; Kankainen, Matti M; Huuhtanen, Jani J; Lundgren, Sofie S; Koski, Yrjö Y; Eldfors, Samuli S; Kelkka, Tiina T; Keränen, Mikko A I MAI; Ellonen, Pekka P; Kovanen, Panu E PE; Kytölä, Soili S; Saarela, Janna J; Lähdesmäki, Harri H; Seppänen, Mikko R J MRJ; Mustjoki, Satu S
Publication Date: 2020-12-01

Variant appearance in text: ABCA1: I680F
PubMed Link: 33256375
Variant Present in the following documents:
  • 2019_220889_SAVOLA_SUPPL.pdf
View BVdb publication page