Genomic variant #0000023003

Individual ID 00017306
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29556201C>G
Reference -
DB-ID NF1_000006 See all 44 reported entries
dbSNP ID rs1257258707
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 0.00746
Allele Count 44
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 -?/-? - c.2568C>G r.(?) p.(Ser856Arg)
NF1 NM_001042492.2 -?/-? - c.2568C>G r.(?) p.(Ser856Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000975 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou