Genomic variant #0000038818

Individual ID 00021291
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74473023C>T
Reference -
DB-ID RHBDF2_000025 See all 4 reported entries
dbSNP ID rs146134173
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 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 -/- - c.1004G>A r.(?) p.(Arg335Gln)
RHBDF2 NM_024599.5 -/- - c.1091G>A r.(?) p.(Arg364Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006914 DNA SEQ-NG-I 1 - 29 Despoina Kalfakakou