Full data view for gene RFC1

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

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam3-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam5a-1 PubMed: Cortese 2019 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - - - - 0 - - 3 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam7-2 PubMed: Cortese 2019 - M yes - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam8-2 PubMed: Cortese 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - - - 0 - - 2 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline yes - - 0 - DNA PCR, SEQ, Southern - - ataxia Fam10-1 PubMed: Cortese 2019 - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S17 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S18 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia S19 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s20 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s21 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s22 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s23 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s24 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s25 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s26 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s27 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s28 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s29 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s30 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s31 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s32 PubMed: Cortese 2019 sporadic case F - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Parent #1 - pathogenic (recessive) g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - - - 0 - DNA PCR, SEQ, Southern - - ataxia s33 PubMed: Cortese 2019 sporadic case M - - - - 0 - - 1 Johan den Dunnen
-?/. 2i c.132+2869_132+2925CCCTT[(400_2000)] r.(=) p.(=) Unknown - benign g.39350043_39350099AAGGG[(400_2000)] g.39348423_39348479AAGGG[(400_2000)] - - RFC1_000004 - PubMed: Cortese 2019 - - Germline - 4/608 chromosomes - 0 - DNA PCR, SEQ, Southern - - Healthy/Control control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - 0 - - 4 Johan den Dunnen
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