Genomic variant #0000018762

Individual ID 00016866
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.29554339C>T
Reference -
DB-ID NF1_000163 See all 2 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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ?/? - c.2325+30C>T r.(=) p.(=)
NF1 NM_001042492.2 ?/? - c.2325+30C>T r.(=) p.(=)
NF1 NM_001128147.2 ?/? - c.*5331C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000603 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou