Genomic variant #0000040156

Individual ID 00022006
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.33434075T>G
Reference Konstanta et al (2018)
DB-ID RAD51D_000005 See all 3 reported entries
dbSNP ID rs141690729
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00052
Allele Count 3
Allele Number 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAD51D NM_001142571.1 ?/? - c.472A>C r.(?) p.(Asn158His)
RAD51D NM_002878.3 ?/? - c.412A>C r.(?) p.(Asn138His)
RAD51D NM_133629.2 ?/? - c.145-575A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007020 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou