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SLC4A5 c.3091-137G>A
Variant ID: 2-74452259-C-T
NM_133478.2(
SLC4A5
):c.3091-137G>A
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs828863
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06
Variant appearance in text: rs828863
PubMed Link:
33503336
Variant Present in the following documents:
CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page
Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.
European Journal Of Human Genetics : Ejhg
Stütz, Adrian M AM; Teran-Garcia, Margarita M; Rao, D C DC; Rice, Treva T; Bouchard, Claude C; Rankinen, Tuomo T
Publication Date: 2009-11
Variant appearance in text: rs828863
PubMed Link:
19384345
Variant Present in the following documents:
Main text
View BVdb publication page