Genomic variant #0000046685

Individual ID 00024192
Chromosome 17
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56798128A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID RAD51C_000016 See all 13 reported entries
Variant remarks partial complementation RAD51C mutated cells
Reference PubMed: Meindl 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency 12/620 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00784 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
RAD51C NM_058216.1 -?/. 6 c.859A>G - r.(?) p.(Thr287Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024184 DNA PCR;SEQ - - RAD51C 4 Johan den Dunnen