Genomic variant #0000040011

Individual ID 00022001
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.29556982A>T
Reference -
DB-ID NF1_000107 See all 12 reported entries
dbSNP ID -
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 0.00203
Allele Count 12
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.2980A>T r.(?) p.(Asn994Tyr)
NF1 NM_001042492.2 ?/? - c.2980A>T r.(?) p.(Asn994Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007014 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou