Genomic variant #0000006058

Individual ID 00021116
Chromosome 5
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.176719140T>C
Reference -
DB-ID NSD1_000008 See all 3 reported entries
dbSNP ID rs146601031
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 0.00052
Allele Count 3
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.6444T>C r.(=) p.(=)
NSD1 NM_172349.2 -?/-? - c.5637T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000168 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou