Genomic variant #0000020406

Individual ID 00019387
Chromosome 5
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.176636782C>T
Reference -
DB-ID NSD1_000048
dbSNP ID rs776330654
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ?/? - c.1382C>T r.(?) p.(Thr461Ile)
NSD1 NM_172349.2 ?/? - c.575C>T r.(?) p.(Thr192Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000728 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou