Genomic variant #0000025284

Individual ID 00017557
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.74469914C>T
Reference -
DB-ID RHBDF2_000031 See all 6 reported entries
dbSNP ID rs201989863
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 0.00104
Allele Count 6
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.1638+7G>A r.(=) p.(=)
RHBDF2 NM_024599.5 -/- - c.1725+7G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001227 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou