Genomic variant #0000027471

Individual ID 00020204
Chromosome 5
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.176637739C>T
Reference -
DB-ID NSD1_000051 See all 6 reported entries
dbSNP ID rs201327209
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 0.00104
Allele Count 6
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.2339C>T r.(?) p.(Ser780Leu)
NSD1 NM_172349.2 -/- - c.1532C>T r.(?) p.(Ser511Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001426 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou