All variants in the HAUS7 gene

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

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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     
+?/. 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
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