Unique 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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
+/. 4 - c.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) - pathogenic (recessive) g.119422069G>C g.119703222G>C - - MAATS1_000003 effect on RNA predicted from expression cloning minigene splicing assay PubMed: Martinez 2020 - rs149348782 Germline - - - - - Johan den Dunnen
+/. 2 - c.682+1G>A r.spl p.? - pathogenic (recessive) g.119434591G>A g.119715744G>A - - MAATS1_000004 - PubMed: Martinez 2020 - rs147597066 Germline - - - - - Johan den Dunnen
?/. 1 - c.1145C>G r.(?) p.(Pro382Arg) - VUS g.119451267C>G - Pro382Asp - MAATS1_000005 - PubMed: Ozen 2017 - - Germline - - - - - Johan den Dunnen
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