Variant #0000406000 (NC_000011.9:g.108124761T>C, ATM(NM_000051.3):c.2119T>C)

Individual ID 00177015
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.108124761T>C
DNA change (hg38) g.108254034T>C
Published as -
ISCN -
DB-ID ATM_000644 See all 12 reported entries
Variant remarks -
Reference PubMed: Papuc 2019
ClinVar ID -
dbSNP ID rs4986761
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00803 View details
Owner Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
Date created 2018-10-03 11:12:58 +02:00 (CEST)
Date last edited 2021-12-27 21:41:53 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 -?/. - c.2119T>C r.(?) p.(Ser707Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177907 DNA SEQ-NG-I blood WES - 4 Anaïs Begemann