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.




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