Genomic variant #0000040186

Individual ID 00022009
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.29552168T>C
Reference -
DB-ID NF1_000318 See all 3 reported entries
dbSNP ID rs527563505
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 0.00051
Allele Count 3
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.1901T>C r.(?) p.(Ile634Thr)
NF1 NM_001042492.2 -?/-? - c.1901T>C r.(?) p.(Ile634Thr)
NF1 NM_001128147.2 -?/-? - c.*3160T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007023 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou