Variant #0000580221 (NC_000004.11:g.39350043_39350099AAGGG[(50_?)], RFC1(NM_002913.4):c.132+2869_132+2925CCCTT[(50_?)])

Individual ID 00249732
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.39350043_39350099AAGGG[(50_?)]
DNA change (hg38) g.39348423_39348479AAGGG[(50_?)]
Published as -
ISCN -
DB-ID RFC1_000022 See all 18 reported entries
Variant remarks -
Reference PubMed: Cortese 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RFC1 NM_002913.4 +/. - c.132+2869_132+2925CCCTT[(50_?)] r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250839 DNA PCR;SEQ;Southern - - RFC1 1 Johan den Dunnen