Genomic variant #0000028139

Individual ID 00020126
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.29554281T>C
Reference -
DB-ID NF1_000018 See all 14 reported entries
dbSNP ID rs863224657
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 0.00237
Allele Count 14
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.2297T>C r.(?) p.(Ile766Thr)
NF1 NM_001042492.2 ?/? - c.2297T>C r.(?) p.(Ile766Thr)
NF1 NM_001128147.2 ?/? - c.*5273T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001480 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou