Variant #0000453996 (NC_000011.9:g.(108225602_108235808)_(108239826_?)dup, NC_000011.9(NM_000051.3):c.(8850+1_8851-1)_(*3591_?)dup (ATM))

Individual ID 00218080
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(108225602_108235808)_(108239826_?)dup
DNA change (hg38) -
Published as dup ex62-63
ISCN -
DB-ID ATM_001230 See all 4 reported entries
Variant remarks -
Reference PubMed: Slavin 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/2134 cases BRCA
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-01-22 10:33:56 +01:00 (CET)
Date last edited 2021-03-04 17:02:22 +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 ?/. 61i_63i c.(8850+1_8851-1)_(*3591_?)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219150 DNA SEQ;SEQ-NG;MLPA - 26 gene panel BRCA ATM 1 Johan den Dunnen


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