Genomic variant #0000042114

Individual ID 00022048
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74475024G>A
Reference -
DB-ID RHBDF2_000076 See all 70 reported entries
dbSNP ID rs3744045
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.0222
Allele Count 131
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 ./. - c.536C>T r.(?) p.(Pro179Leu)
RHBDF2 NM_024599.5 ./. - c.623C>T r.(?) p.(Pro208Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007545 DNA SEQ-NG-I 1 - 45 Stevi Xera