Genomic variant #0000026077

Individual ID 00017806
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.74473078C>T
Reference -
DB-ID RHBDF2_000018 See all 7 reported entries
dbSNP ID rs144817869
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 0.00122
Allele Count 7
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.949G>A r.(?) p.(Gly317Arg)
RHBDF2 NM_024599.5 -/- - c.1036G>A r.(?) p.(Gly346Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001306 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou