Full data view for gene ATM

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

24 entries on 1 page. Showing entries 1 - 24.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 48 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Becker-Catania 2000 - - - - - - - - - 1 Patrick Concannon
?/. 48 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 48 c.6679C>T r.(?) p.(Arg2227Cys) Unknown - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Jiang 2006 - - - China - - - - - 1 Patrick Concannon
?/. 48 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Babaei 2005 - - - Iran - - - - - 1 Patrick Concannon
?/. 48 c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Buzin 2003 - - - - - - - - - 1 Patrick Concannon
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Both (homozygous) - pathogenic g.108196143C>T g.108325416C>T - - ATM_000256 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT07 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - pathogenic g.108196143C>T g.108325416C>T - - ATM_000256 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT23 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - pathogenic g.108196143C>T g.108325416C>T - - ATM_000256 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT30 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - pathogenic g.108196143C>T g.108325416C>T ATM(NM_000051.3):c.6679C>T (p.R2227C), ATM(NM_001351834.2):c.6679C>T (p.R2227C) - ATM_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - pathogenic g.108196143C>T g.108325416C>T - - ATM_000256 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs564652222 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - VUS g.108196143C>T - - - ATM_000256 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - NA g.108196143C>T - chr11_108196143_C_T - ATM_000256 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - pathogenic g.108196143C>T - ATM(NM_000051.3):c.6679C>T (p.R2227C), ATM(NM_001351834.2):c.6679C>T (p.R2227C) - ATM_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.6679C>T r.(?) p.(Arg2227Cys) Unknown - likely pathogenic g.108196143C>T - ATM(NM_000051.3):c.6679C>T (p.R2227C), ATM(NM_001351834.2):c.6679C>T (p.R2227C) - ATM_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - VUS g.108196143C>T g.108325416C>T - - ATM_000256 - PubMed: Sandoval 1999 - - Germline - - - - - DNA SEQ - - AT Aa055 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
+?/. - c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat31 PubMed: Verhagen 2012 - M - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Both (homozygous) - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-51548A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-33607A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-34370A002 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #1 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-34384A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-45066A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-37485A016 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 46 c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - likely pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-36533A002 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.6679C>T r.(?) p.(Arg2227Cys) Parent #2 - pathogenic (recessive) g.108196143C>T g.108325416C>T - - ATM_000256 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat6;55.F4 PubMed: Meneret 2014, PubMed: van Os 2019 - F - France - - - - - 1 Johan den Dunnen
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