Genomic variant #0000020449

Individual ID 00016961
Chromosome 17
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74473329C>T
Reference -
DB-ID RHBDF2_000002 See all 2 reported entries
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00048
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 ./. - c.853G>A r.(?) p.(Ala285Thr)
RHBDF2 NM_024599.5 ./. - c.940G>A r.(?) p.(Ala314Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000731 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou