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 International |
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) |

Variant on transcripts
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