Genomic variant #0000019076

Individual ID 00019983
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.74470000A>T
Reference -
DB-ID RHBDF2_000013 See all 29 reported entries
dbSNP ID -
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 0.00503
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 ?/? - c.1575-16T>A r.(=) p.(=)
RHBDF2 NM_024599.5 ?/? - c.1662-16T>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000629 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou