Genomic variant #0000042735

Individual ID 00022068
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.176721198T>C
Reference -
DB-ID NSD1_000111 See all 73 reported entries
dbSNP ID rs28580074
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.02322
Allele Count 137
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 ./. - c.6829T>C r.(=) p.(=)
NSD1 NM_172349.2 ./. - c.6022T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007565 DNA SEQ-NG-I 1 - 39 Stevi Xera