Genomic variant #0000013360

Individual ID 00016678
Chromosome 11
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.533451A>C
Reference -
DB-ID HRAS_000002 See all 8 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 0.00139
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRAS NM_001130442.1 +?/+? - c.450+2T>G r.spl? p.?
HRAS NM_005343.2 +?/+? - c.450+2T>G r.spl? p.?
HRAS NM_176795.3 +?/+? - c.450+2T>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000346 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou