Full data view for gene MAOB

Information The variants shown are described using the NM_000898.4 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.-326_*1980391del r.0? p.0? Unknown - pathogenic g.41646322_43741871del - - - CASK_000037 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.-71C>G - p.(=) Maternal (inferred) - VUS g.43741616G>C g.43882370G>C - - MAOB_000005 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-71C>G - p.(=) Maternal (inferred) - VUS g.43741616G>C g.43882370G>C - - MAOB_000005 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - VUS g.43698134G>A g.43838888G>A MAOB(NM_000898.4):c.259C>T (p.R87C) - MAOB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326C>T r.(?) p.(Pro109Leu) Parent #1 - VUS g.43662605G>A g.43803358G>A - - MAOB_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.379C>T r.(?) p.(Arg127Ter) Unknown - VUS g.43662552G>A g.43803305G>A - - MAOB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397G>A r.(?) p.(Ala133Thr) Unknown - VUS g.43661498C>T g.43802251C>T MAOB(NM_000898.4):c.397G>A (p.(Ala133Thr)) - MAOB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.402A>G r.(=) p.(=) Parent #1 - likely benign g.43661493T>C g.43802246T>C P134P - MAOB_000002 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.442A>G r.(?) p.(Met148Val) Unknown - likely benign g.43661453T>C g.43802206T>C MAOB(NM_000898.4):c.442A>G (p.M148V) - MAOB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476+113A>C r.(=) p.(=) Unknown - VUS g.43661306T>G g.43802059T>G - - MAOB_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1030A>C r.(?) p.(Ile344Leu) Unknown - VUS g.43639638T>G g.43780391T>G - - MAOB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1348-36A>G r.(=) p.(=) Maternal (inferred) - VUS g.43627999T>C g.43768752T>C - - MAOB_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1348-36A>G r.(=) p.(=) Maternal (inferred) - VUS g.43627999T>C g.43768752T>C - - MAOB_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1444T>A r.(?) p.(Leu482Met) Unknown - likely benign g.43626832A>T g.43767585A>T MAOB(NM_000898.4):c.1444T>A (p.(Leu482Met)) - MAOB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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