Variant #0000749418 (NC_000017.10:g.56772344A>T, NM_058216.1:c.198A>T (RAD51C))

Individual ID 00348557
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.56772344A>T
DNA change (hg38) -
Published as chr17_56772344_A_T
ISCN -
DB-ID RAD51C_000088
Variant remarks not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/60466 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-11 12:04:16 +01:00 (CET)
Date last edited 2021-03-15 13:54:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
RAD51C NM_058216.1 ?/. - c.198A>T r.(?) p.(Arg66Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000349787 DNA SEQ-NG - 34-gene panel RAD51C 1 BRIDGES consortium


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