All variants in the RFC1 gene

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(1000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1000)] g.39348423_39348479AAGGG[(1000)] - - RFC1_000006 - PubMed: Cortese 2019 - - Germline - - - 0 - Johan den Dunnen
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