Genomic variant #0000021327

Individual ID 00017088
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.74468870G>A
Reference -
DB-ID RHBDF2_000029 See all 4 reported entries
dbSNP ID rs755084226
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 0.00096
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_001005498.3 -?/-? - c.1962C>T r.(=) p.(=)
RHBDF2 NM_024599.5 -?/-? - c.2049C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000811 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou