Genomic variant #0000033361

Individual ID 00017844
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.29483195G>C
Reference -
DB-ID NF1_000021 See all 21 reported entries
dbSNP ID rs17885980
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00364
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ./. - c.204+51G>C r.(=) p.(=)
NF1 NM_001042492.2 ./. - c.204+51G>C r.(=) p.(=)
NF1 NM_001128147.2 ./. - c.204+51G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001957 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou