Full data view for gene ASB11

Information The variants shown are described using the NM_001012428.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-1035A>G r.(?) p.(=) Unknown - VUS g.15333643T>C g.15315521T>C ASB11(NM_080873.2):c.85A>G (p.K29E) - ASB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1013C>A r.(?) p.(=) Unknown - VUS g.15333621G>T - ASB11(NM_080873.2):c.107C>A (p.T36N) - ASB11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-938G>A r.(?) p.(=) Unknown - likely benign g.15333546C>T g.15315424C>T ASB11(NM_080873.2):c.181+1G>A - ASB11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.51T>C r.(?) p.(=) Maternal (inferred) - VUS g.15332558A>G g.15314436A>G - - ASB11_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.51T>C r.(?) p.(=) Maternal (inferred) - VUS g.15332558A>G g.15314436A>G - - ASB11_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.118+22del r.(=) p.(=) Unknown - VUS g.15332469del g.15314347del - - ASB11_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.118+39dup r.(=) p.(=) Unknown - VUS g.15332468dup g.15314346dup - - ASB11_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.118+40del r.(=) p.(=) Unknown - VUS g.15332451del g.15314329del - - ASB11_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.118+40del r.(=) p.(=) Unknown - VUS g.15332451del g.15314329del - - ASB11_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.224_227del r.(?) p.(Ile75ThrfsTer31) Unknown - VUS g.15315777_15315780del g.15297655_15297658del ASB11(NM_001012428.2):c.224_227del (p.(Ile75ThrfsTer31)), ASB11(NM_080873.2):c.287_290delTTAA (p.I96Tfs*31) - ASB11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224_227del r.(?) p.(Ile75ThrfsTer31) Unknown - VUS g.15315777_15315780del g.15297655_15297658del ASB11(NM_001012428.2):c.224_227del (p.(Ile75ThrfsTer31)), ASB11(NM_080873.2):c.287_290delTTAA (p.I96Tfs*31) - ASB11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>C r.(?) p.(Val78Leu) Unknown - VUS g.15315770C>G g.15297648C>G ASB11(NM_001012428.2):c.232G>C (p.(Val78Leu)) - ASB11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.255C>A r.(?) p.(Cys85Ter) Unknown - VUS g.15315747G>T g.15297625G>T ASB11(NM_001012428.2):c.255C>A (p.(Cys85Ter)) - ASB11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.472A>G r.(?) p.(Met158Val) Unknown - VUS g.15307746T>C - ASB11(NM_080873.2):c.535A>G (p.M179V) - ASB11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724A>G r.(?) p.(Ser242Gly) Parent #1 - VUS g.15306063T>C g.15287941T>C - - ASB11_000017 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
-?/. - c.724A>G r.(?) p.(Ser242Gly) Unknown - likely benign g.15306063T>C g.15287941T>C ASB11(NM_001012428.2):c.724A>G (p.(Ser242Gly)) - ASB11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785G>A r.(?) p.(Gly262Asp) Unknown - VUS g.15301751C>T g.15283629C>T ASB11(NM_001012428.2):c.785G>A (p.?) - ASB11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.835G>A r.(?) p.(Gly279Ser) Unknown - VUS g.15301701C>T g.15283579C>T ASB11(NM_080873.2):c.898G>A (p.(Gly300Ser)) - ASB11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.838C>T r.(?) p.(Arg280Ter) Unknown - VUS g.15301698G>A g.15283576G>A ASB11(NM_001012428.2):c.838C>T (p.(Arg280Ter)) - ASB11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.850C>G r.(?) p.(Gln284Glu) Unknown - likely benign g.15301686G>C g.15283564G>C ASB11(NM_001012428.2):c.850C>G (p.(Gln284Glu)) - ASB11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.904C>T r.(?) p.(Gln302Ter) Unknown - VUS g.15301632G>A g.15283510G>A ASB11(NM_080873.2):c.967C>T (p.(Gln323Ter)) - ASB11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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