Full data view for gene ASB12

Information The variants shown are described using the NM_130388.3 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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.14T>G r.(?) p.(Leu5Arg) Unknown - VUS g.63445517A>C g.64225637A>C ASB12(NM_130388.3):c.14T>G (p.L5R) - ASB12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72C>T r.(=) p.(=) Parent #1 - likely benign g.63445459G>A g.64225579G>A 45C>T (P15P) - ASB12_000006 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.120T>A r.(?) p.(Asn40Lys) Unknown - VUS g.63445411A>T g.64225531A>T ASB12(NM_130388.3):c.120T>A (p.N40K) - ASB12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138C>T r.(?) p.(Asn46=) Unknown - likely benign g.63445393G>A g.64225513G>A ASB12(NM_130388.3):c.138C>T (p.N46=) - ASB12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226C>A r.(?) p.(Pro76Thr) Unknown - VUS g.63445305G>T - ASB12(NM_130388.3):c.226C>A (p.P76T) - ASB12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326C>T r.(?) p.(Pro109Leu) Unknown - VUS g.63445205G>A g.64225325G>A ASB12(NM_130388.3):c.326C>T (p.P109L) - ASB12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442C>T r.(?) p.(Arg148Cys) Unknown - VUS g.63445089G>A g.64225209G>A ASB12(NM_130388.3):c.442C>T (p.(Arg148Cys)) - ASB12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.498C>T r.(?) p.(Asn166=) Unknown - likely benign g.63445033G>A g.64225153G>A ASB12(NM_130388.3):c.498C>T (p.N166=) - ASB12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592C>T r.(?) p.(Arg198Cys) Unknown - likely benign g.63444939G>A g.64225059G>A ASB12(NM_130388.3):c.592C>T (p.R198C) - ASB12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.671G>A r.(?) p.(Arg224His) Unknown - likely benign g.63444860C>T g.64224980C>T ASB12(NM_130388.3):c.671G>A (p.R224H) - ASB12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739G>T r.(?) p.(Gly247Cys) Parent #1 - VUS g.63444792C>A g.64224912C>A 712G>T (G238C) - ASB12_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.806del r.(?) p.(Leu269Cysfs*18) Unknown - VUS g.63444726del - ASB12(NM_130388.3):c.806delT (p.L269Cfs*18) - ASB12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>A r.(=) p.(=) Parent #1 - likely benign g.63444712G>T g.64224832G>T 792C>A (A264A) - ASB12_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.865C>T r.(?) p.(Arg289Cys) Unknown - VUS g.63444307G>A g.64224427G>A ASB12(NM_130388.3):c.865C>T (p.R289C) - ASB12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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