Full data view for gene MAATS1

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

4 entries on 1 page. Showing entries 1 - 4.
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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.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) Both (homozygous) - 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 - - - 0 - DNA SEQ, SEQ-NG - - INFM Pat3 PubMed: Martinez 2020 - M - France North Africa - 0 - - 1 Johan den Dunnen
+/. - c.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) Both (homozygous) - 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 - - - 0 - DNA SEQ, SEQ-NG - - INFM Pat4 PubMed: Martinez 2020 - M - France North Africa - 0 - - 1 Johan den Dunnen
+/. - c.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) Both (homozygous) - 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 - - - 0 - DNA SEQ, SEQ-NG - - INFM Pat5 PubMed: Martinez 2020 - M - France North Africa - 0 - - 2 Johan den Dunnen
+/. - c.124G>C r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) Both (homozygous) - 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 - - - 0 - DNA SEQ, SEQ-NG - - INFM Pat6 PubMed: Martinez 2020 - M - France North Africa - 0 - - 2 Johan den Dunnen
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