Unique variants in the RFC1 gene

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

28 entries on 1 page. Showing entries 1 - 28.
Legend   How to query  

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     
+/. 12 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 - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(1080)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1080)] g.39348423_39348479AAGGG[(1080)] - - RFC1_000005 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 6 2i c.132+2869_132+2925CCCTT[(1100)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1100)] g.39348423_39348479AAGGG[(1100)] - - RFC1_000013 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(1150)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1150)] g.39348423_39348479AAGGG[(1150)] - - RFC1_000012 - PubMed: Cortese 2019 - - Germline - - - - - Johan den Dunnen
+/. 8 2i c.132+2869_132+2925CCCTT[(1200)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1200)] g.39348423_39348479AAGGG[(1200)] - - RFC1_000003 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(1280)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1280)] g.39348423_39348479AAGGG[(1280)] - - RFC1_000018 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(1300)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1300)] g.39348423_39348479AAGGG[(1300)] - - RFC1_000021 - PubMed: Cortese 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(1400)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1400)] g.39348423_39348479AAGGG[(1400)] - - RFC1_000008 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 4 2i c.132+2869_132+2925CCCTT[(1480)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1480)] g.39348423_39348479AAGGG[(1480)] - - RFC1_000017 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 3 2i c.132+2869_132+2925CCCTT[(1800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(1800)] g.39348423_39348479AAGGG[(1800)] - - RFC1_000019 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(2000)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(2000)] g.39348423_39348479AAGGG[(2000)] - - RFC1_000020 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.132+2869_132+2925CCCTT[(400)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(400)] g.39348423_39348479AAGGG[(400)] - - RFC1_000009 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/., -?/. 23 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) - benign, pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes 4/608 chromosomes - - - Johan den Dunnen
+/. 18 - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(50_?)] g.39348423_39348479AAGGG[(50_?)] - - RFC1_000022 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 3 2i c.132+2869_132+2925CCCTT[(600)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(600)] g.39348423_39348479AAGGG[(600)] - - RFC1_000007 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 5 2i c.132+2869_132+2925CCCTT[(700)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(700)] g.39348423_39348479AAGGG[(700)] - - RFC1_000011 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 4 2i c.132+2869_132+2925CCCTT[(800)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(800)] g.39348423_39348479AAGGG[(800)] - - RFC1_000010 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 13 2i c.132+2869_132+2925CCCTT[(880)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(880)] g.39348423_39348479AAGGG[(880)] - - RFC1_000002 - PubMed: Cortese 2019 - - Germline yes - - - - Johan den Dunnen
+/. 2 2i c.132+2869_132+2925CCCTT[(900)] r.(=) p.(=) - pathogenic (recessive) g.39350043_39350099AAGGG[(900)] g.39348423_39348479AAGGG[(900)] - - RFC1_000014 - PubMed: Cortese 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 2i c.132+2869_132+2925CCTTT[(40_1000)] r.(=) p.(=) - benign g.39350043_39350099AAAGG[(40_1000)] g.39348423_39348479AAAGG[(40_1000)] - - RFC1_000016 - PubMed: Cortese 2019 - - Germline - 48/608 chromosomes - - - Johan den Dunnen
-?/. 1 2i c.132+2869_132+2925CTTTT[(15_200)] r.(=) p.(=) - benign g.39350043_39350099AAAAG[(15_200)] g.39348423_39348479AAAAG[(15_200)] - - RFC1_000015 - PubMed: Cortese 2019 - - Germline - 79/608 chromosomes - - - Johan den Dunnen
?/. 1 - c.551G>A r.(?) p.(Ser184Asn) - VUS g.39329157C>T - - - RFC1_000028 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1226G>A r.(?) p.(Gly409Asp) - VUS g.39314529C>T - - - RFC1_000027 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1808G>A r.(?) p.(Gly603Asp) - VUS g.39310333C>T - - - RFC1_000026 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. 4 - c.2146C>G r.(?) p.(Leu716Val) - VUS g.39304736G>C - - - RFC1_000025 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
./. 1 16 c.2192del r.(?) p.(Gly731Glufs*6) - VUS g.39304693del g.39303073del 2191delA - RFC1_000001 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 1 - c.2445T>G r.(?) p.(His815Gln) - VUS g.39303988A>C - - - RFC1_000024 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.2501C>G r.(?) p.(Ala834Gly) - VUS g.39303932G>C - - - RFC1_000023 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
Legend   How to query