Genomic variant #0000029244

Individual ID 00020925
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.74470573C>T
Reference -
DB-ID RHBDF2_000048
dbSNP ID rs763844221
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 ?/? - c.1346G>A r.(?) p.(Arg449Gln)
RHBDF2 NM_024599.5 ?/? - c.1433G>A r.(?) p.(Arg478Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001581 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou