Genomic variant #0000042800

Individual ID 00022069
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.29556279T>C
Reference -
DB-ID NF1_000320 See all 16 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 0.00271
Allele Count 16
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.2646T>C - -
NF1 NM_001042492.2 ./. - c.2646T>C - -



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007566 DNA SEQ-NG-I 1 - 45 Stevi Xera