Full data view for gene RFC1

Information The variants shown are described using the NM_002913.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS1 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - Europe - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS2 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS3 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - Cyprus Greece - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS4 PubMed: Rafehi 2019 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M - - - - 0 - - 4 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS5 PubMed: Rafehi 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Lithuania;Latvia - - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS6 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS7 PubMed: Rafehi 2019 - M - Australia Europe; Maori - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS8 PubMed: Rafehi 2019 - F - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS9 PubMed: Rafehi 2019 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Lebanon - - 0 - - 4 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS10 PubMed: Rafehi 2019 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS12 PubMed: Rafehi 2019 - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS14 PubMed: Rafehi 2019 - M - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS16 PubMed: Rafehi 2019 - F - - Europe - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS18 PubMed: Rafehi 2019 - F - Australia Europe; Maori - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS20 PubMed: Rafehi 2019 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Spain - - 0 - - 2 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS21 PubMed: Rafehi 2019 - M - India - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS22 PubMed: Rafehi 2019 - M - Hungary - - 0 - - 1 Johan den Dunnen
+/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia CANVAS23 PubMed: Rafehi 2019 - - - - - - 0 - - 1 Johan den Dunnen
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