Genomic variant #0000039694

Individual ID 00016647
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.29554205A>T
Reference -
DB-ID NF1_000016 See all 13 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) Variant not found in online data sets
Average frequency in greek population 0.00225
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ./. - c.2252-31A>T r.(=) p.(=)
NF1 NM_001042492.2 ./. - c.2252-31A>T r.(=) p.(=)
NF1 NM_001128147.2 ./. - c.*5197A>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006982 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou