Genomic variant #0000022744

Individual ID 00017282
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.176631216G>C
Reference -
DB-ID NSD1_000053
dbSNP ID rs1374361789
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.1159G>C r.(?) p.(Glu387Gln)
NSD1 NM_172349.2 ?/? - c.352G>C r.(?) p.(Glu118Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000951 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou