Genomic variant #0000020958

Individual ID 00017034
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.176637211G>T
Reference -
DB-ID NSD1_000047 See all 2 reported entries
dbSNP ID rs61744451
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     
NSD1 NM_022455.4 -/- - c.1811G>T r.(?) p.(Arg604Leu)
NSD1 NM_172349.2 -/- - c.1004G>T r.(?) p.(Arg335Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000778 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou