Genomic variant #0000025177

Individual ID 00017546
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.33428027A>T
Reference Konstanta et al (2018)
DB-ID RAD51D_000010 See all 3 reported entries
dbSNP ID rs145309168
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.992T>A r.(?) p.(Ile331Asn)
RAD51D NM_002878.3 ?/? - c.932T>A r.(?) p.(Ile311Asn)
RAD51D NM_133629.2 ?/? - c.596T>A r.(?) p.(Ile199Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001193 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou