Genomic variant #0000018848

Individual ID 00019967
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.33428327G>A
Reference Konstanta et al (2018)
DB-ID RAD51D_000001 See all 4 reported entries
dbSNP ID rs587781813
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 0.0007
Allele Count 4
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.856C>T r.(?) p.(Arg286Cys)
RAD51D NM_002878.3 ?/? - c.796C>T r.(?) p.(Arg266Cys)
RAD51D NM_133629.2 ?/? - c.460C>T r.(?) p.(Arg154Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000611 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou