Genomic variant #0000007040

Individual ID 00016470
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.74470194C>A
Reference -
DB-ID RHBDF2_000006 See all 11 reported entries
dbSNP ID rs11553545
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 0.00191
Allele Count 11
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.1495G>T r.(?) p.(Asp499Tyr)
RHBDF2 NM_024599.5 -?/-? - c.1582G>T r.(?) p.(Asp528Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000192 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou