Variant #0001025900 (NC_000011.9:g.108236086C>T, NM_000051.3:c.9022C>T (ATM))
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.108236086C>T |
DNA change (hg38) |
- |
Published as |
ATM(NM_000051.4):c.9022C>T (p.R3008C) |
ISCN |
- |
DB-ID |
ATM_000330 See all 13 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
VKGL-NL_Nijmegen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Nijmegen |
Date created |
2025-02-07 18:57:27 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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