Full data view for gene HAUS7

Information The variants shown are described using the NM_017518.6 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-873861_*2530dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-?/. 4i c.384+65A>G r.(=) p.(=) Maternal (inferred) - likely benign g.152728003T>C g.153462545T>C - - HAUS7_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 4i c.384+65A>G r.(=) p.(=) Maternal (inferred) - likely benign g.152728003T>C g.153462545T>C - - HAUS7_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. 4i c.384+612G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.152727456C>T g.153461998C>T - - HAUS7_000007 cDNA analysis demonstrated aberrant splicing - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I bl,lymphoblast,fibros - dystrophy, bullous, hereditary, macular type (EBM) - - - M - Netherlands caucasian - 0 - - 3 Najim Ameziane
?/. - c.467G>T r.(?) p.(Ser156Ile) Parent #1 - VUS g.152722604C>A g.153457146C>A R156L - HAUS7_000014 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators 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
+?/. 7 c.735G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.152721723C>T g.153456265C>T - - HAUS7_000005 cDNA analysis demonstrated aberrant splicing - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood, lymphosblast - dystrophy, bullous, hereditary, macular type (EBM) - - - M - Italy caucasian - 0 - - 1 Najim Ameziane
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