Genomic variant #0000020691

Individual ID 00016982
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29490255C>T
Reference -
DB-ID NF1_000198 See all 2 reported entries
dbSNP ID rs7207410
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 -/- - c.340C>T r.(=) p.(=)
NF1 NM_001042492.2 -/- - c.340C>T r.(=) p.(=)
NF1 NM_001128147.2 -/- - c.340C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000752 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou