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 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 +?/. - c.9022C>T r.(?) p.(Arg3008Cys)
C11orf65 NM_152587.3 +?/. - c.*17662G>A r.(=) p.(=)


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