ATM c.2071_2073del ;(p.D691del)

Variant ID: 11-108124713-GGAT-G

NM_000051.3(ATM):c.2071_2073del;(p.D691del)

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:

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.

Diagnostics (Basel, Switzerland)
Miclea, Diana D; Alkhzouz, Camelia C; Bucerzan, Simona S; Grigorescu-Sido, Paula P; Popp, Radu Anghel RA; Pascanu, Ionela Maria IM; Cret, Victoria V; Ghervan, Cristina C; Blaga, Ligia L; Zaharie, Gabriela G
Publication Date: 2021-11-14

Variant appearance in text: ATM: 2071_2073del; Asp691del
PubMed Link: 34829455
Variant Present in the following documents:
  • Main text
View BVdb publication page