Genomic variant #0000044450

Individual ID 00022120
Chromosome 5
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.176638506G>C
Reference -
DB-ID NSD1_000110 See all 8 reported entries
dbSNP ID rs28932179
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 0.00136
Allele Count 8
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.3106G>C r.(?) p.(Ala1036Pro)
NSD1 NM_172349.2 ./. - c.2299G>C r.(?) p.(Ala767Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007618 DNA SEQ-NG-I 1 - 39 Stevi Xera