Genomic variant #0000030313

Individual ID 00017967
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.74470505C>T
Reference -
DB-ID RHBDF2_000052
dbSNP ID rs1228203051
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.1414G>A r.(?) p.(Val472Ile)
RHBDF2 NM_024599.5 ?/? - c.1501G>A r.(?) p.(Val501Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001678 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou