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ATM c.1121A>T ;(p.Q374L)
Variant ID: 11-108119715-A-T
NM_000051.3(
ATM
):c.1121A>T;(p.Q374L)
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:
Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency
Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Aslan, Deniz D
Publication Date: 2021-06-01
Variant appearance in text: ATD: 1121A>T
PubMed Link:
33401890
Variant Present in the following documents:
Main text
TJH-38-161.pdf
View BVdb publication page