Full data view for gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
+/+ - c.8395_8404del r.(?) p.(Phe2799Lysfs*4) Parent #2 g.108214075_108214084del Fostira et al (2020)  ATM_000106 rs786202800 - Germline - - - - DNA SEQ-NG-I 1 ALL, SkCa - M Russia Kissamos, Chania Greek no - 4 Despoina Kalfakakou
+/+ - c.8395_8404del r.(?) p.(Phe2799Lysfs*4) Parent #2 g.108214075_108214084del Fostira et al (2020)  ATM_000106 rs786202800 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 4 Despoina Kalfakakou
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