RGD:11665361 Rat Genome Database

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Variant: RGD:11665361 -  Homo sapiens

RGD ID: 11665361
ClinVar ID: CV293100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 1,901,093
GRCh38 4 1,899,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001042424.3:c.-29-1260A>G
NM_133330.2:c.-59A>G
NG_009269.1:g.32971A>G
NC_000004.12:g.1899366A>G
More... 		06/14/2016 2kb upstream variant|5 prime utr variant likely benign antenatal 1-9 / 100 000 Chromosome 4p syndrome; CHROMOSOME 4p16.3 DELETION SYNDROME; Mental retardation, unusual facies, and intrauterine growth retardation; Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation; PITT SYNDROME; Prenatal and postnatal growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and absence of speech; Wittwer syndrome; Wolf syndrome; Wolf-Hirschhorn Syndrome

Variant Details
Variant Transcripts
Gene Symbol:NSD2
Accession:NM_133331
Location:5UTRS;EXON

Gene Symbol:NSD2
Accession:NM_133330
Location:5UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416137
Location:5UTRS;EXON

Gene Symbol:NSD2
Accession:NM_007331
Location:5UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416144
Location:5UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416142
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_047416139
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:NM_001042424
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_005248001
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_047416141
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_047416138
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_047416143
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:NM_133335
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_005248002
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_005248005
Location:5UTRS;INTRON

Gene Symbol:NSD2
Accession:XM_011513560
Location:INTRON

Gene Symbol:NSD2
Accession:NM_133334
Location:INTRON

Variant Samples