Genomic variant #0000046699

Individual ID 00024198
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56798178G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID RAD51C_000046 See all 4 reported entries
Variant remarks not in 2912 controls
Reference PubMed: Meindl 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency 1/480 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
RAD51C NM_058216.1 +/. 6i c.904+5G>T - r.838_904del p.Val236_Ala279 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024190 DNA;RNA PCR;RT-PCR;SEQ - - RAD51C 1 Johan den Dunnen