Full data view for gene ATM

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.5558A>T r.(?) p.(Asp1853Val) Parent #1 - benign g.108175463A>T g.108304736A>T - - ATM_000616 - - - rs1801673 Germline - Frequency up to 2% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 39 c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T - - ATM_000616 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T ATM(NM_000051.3):c.5558A>T (p.D1853V, p.(Asp1853Val), p.Asp1853Val), ATM(NM_000051.4):c.5558A>T (p.D1853V), ATM(NM_001351834.1):c.5558A>T (p.D1853V) - ATM_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5558A>T r.(?) p.(Asp1853Val) Parent #1 - VUS g.108175463A>T g.108304736A>T - - ATM_000616 conflicting interpretations of pathogenicity; 33 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801673 Germline - 33/2776 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 33 Mohammed Faruq
?/. - c.5558A>T r.(?) p.(Asp1853Val) Both (homozygous) - VUS g.108175463A>T g.108304736A>T - - ATM_000616 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801673 Germline - 2/2776 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. 39 c.5558A>T r.(?) p.(Asp1853Val) Parent #1 - likely pathogenic g.108175463A>T g.108304736A>T A>T5558 (D1853V) - ATM_000616 - PubMed: Dork 2001 - - Germline - 3/192 cases breast cancer - - - DNA SEQ, SSCA - - cancer, breast - PubMed: Dork 2001 analysis 192 breast cancer cases - - Germany - - - - - 2 Johan den Dunnen
+?/. 39 c.5558A>T r.(?) p.(Asp1853Val) Parent #1 - likely pathogenic g.108175463A>T g.108304736A>T A>T5558 (D1853V) - ATM_000616 - PubMed: Dork 2001 - - Germline - 3/192 cases breast cancer - - - DNA SEQ, SSCA - - cancer, breast - PubMed: Dork 2001 analysis 192 breast cancer cases - - Germany - - - - - 1 Johan den Dunnen
-?/. 37 c.5558A>T r.(?) p.(Asp1853Val) Unknown - likely benign g.108175463A>T g.108304736A>T 5558A>T - ATM_000616 - PubMed: Sandoval 1999 - - Germline - 0.03 - - - DNA SEQ, SSCA - - cancer, breast - PubMed: Sandoval 1999 analysis 66 AT cases - - Germany - - - - - 1 Johan den Dunnen
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