All variants in the MAATS1 gene

NOTE: gene name changed from MAATS1 to CFAP91
Information The variants shown are described using the NM_033364.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.682+1G>A r.spl p.? - pathogenic (recessive) g.119434591G>A g.119715744G>A - - MAATS1_000004 - PubMed: Martinez 2020 - rs147597066 Germline - - - 0 - Johan den Dunnen
+/. - c.682+1G>A r.spl p.? - pathogenic (recessive) g.119434591G>A g.119715744G>A - - MAATS1_000004 - PubMed: Martinez 2020 - rs147597066 Germline - - - 0 - Johan den Dunnen
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