RGD:11666178 Rat Genome Database

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Variant: RGD:11666178 -  Homo sapiens

RGD ID: 11666178
ClinVar ID: CV293191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 1,982,301
GRCh38 4 1,980,574
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_133330.2:c.*1665C>T
NG_009269.1:g.114179C>T
NC_000004.12:g.1980574C>T
NC_000004.11:g.1982301C>T
More...
06/14/2016 3 prime utr variant uncertain significance 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_001042424
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:NM_133335
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:NM_133330
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:NM_133331
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_005248002
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_005248001
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_011513560
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416138
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416141
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416137
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416142
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:XM_047416139
Location:3UTRS;EXON

Gene Symbol:NSD2
Accession:NM_007331
Location:INTRON

Gene Symbol:NSD2
Accession:NM_133334
Location:INTRON

Gene Symbol:NSD2
Accession:XM_005248005
Location:INTRON

Gene Symbol:NSD2
Accession:XM_047416143
Location:INTRON

Gene Symbol:NSD2
Accession:XM_047416144
Location:INTRON

Variant Samples