Genomic variant #0000046722

Individual ID 00024211
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56772543C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID RAD51C_000004
Variant remarks not in 427 controls
Reference PubMed: Thompson 2012, Journal: Thompson 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/314 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ian Campbell




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
RAD51C NM_058216.1 +/. 2 c.397C>T - r.(?) p.(Gln133*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024203 DNA SEQ - - RAD51C 1 Ian Campbell