All variants in the HAUS7 gene

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     

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     

Owner     
./. - c.-873861_*2530dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. 4i c.384+65A>G r.(=) p.(=) - likely benign g.152728003T>C g.153462545T>C - - HAUS7_000006 - - - - Germline - - - 0 - Yu Sun
-?/. 4i c.384+65A>G r.(=) p.(=) - likely benign g.152728003T>C g.153462545T>C - - HAUS7_000006 - - - - Germline - - - 0 - Yu Sun
+?/. 4i c.384+612G>A r.spl p.? - likely pathogenic g.152727456C>T g.153461998C>T - - HAUS7_000007 cDNA analysis demonstrated aberrant splicing - - - Germline yes - - 0 - Najim Ameziane
?/. - c.467G>T r.(?) p.(Ser156Ile) - 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 - Lucy Raymond
+?/. 7 c.735G>A r.spl p.? - likely pathogenic g.152721723C>T g.153456265C>T - - HAUS7_000005 cDNA analysis demonstrated aberrant splicing - - - Germline yes - - 0 - Najim Ameziane
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