Genomic variant #0000040361

Individual ID 00015117
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.33430189_33430227dup
Reference Konstanta et al (2018)
DB-ID RAD51D_000032
dbSNP ID -
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 Variant not found in online data sets
Allele Count 0
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.798+46_798+84dup r.(=) p.(=)
RAD51D NM_002878.3 ?/? - c.738+46_738+84dup r.(=) p.(=)
RAD51D NM_133629.2 ?/? - c.402+46_402+84dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007034 DNA SEQ-NG 0 - 1 Despoina Kalfakakou