Genomic variant #0000043249

Individual ID 00022084
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.29508775G>A
Reference -
DB-ID NF1_000326 See all 68 reported entries
dbSNP ID rs1801052
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 0.01932
Allele Count 114
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ./. - c.702G>A - -
NF1 NM_001042492.2 ./. - c.702G>A - -
NF1 NM_001128147.2 ./. - c.702G>A - -



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007582 DNA SEQ-NG-I 1 - 45 Stevi Xera