Genomic variant #0000043541

Individual ID 00022090
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.29553690A>G
Reference -
DB-ID NF1_000131 See all 6 reported entries
dbSNP ID -
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 0.00102
Allele Count 6
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.2239A>G - -
NF1 NM_001042492.2 ./. - c.2239A>G - -
NF1 NM_001128147.2 ./. - c.*4682A>G - -



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007588 DNA SEQ-NG-I 1 - 58 Stevi Xera