RGD:21071427 Rat Genome Database

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Variant: RGD:21071427 -  Homo sapiens

RGD ID: 21071427
RS ID: rs1581411423
ClinVar ID: CV790543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 176,666,756
GRCh38 5 177,239,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_512:g.111677G>A
NG_009821.1:g.111677G>A
NC_000005.10:g.177239755G>A
NC_000005.9:g.176666756G>A
More... 		05/28/2019 splice acceptor variant likely pathogenic Cerebral gigantism; CHROMOSOME 5q35 DELETION SYNDROME; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; SOTOS SYNDROME 1; Sotos' syndrome
Disease Annotations     Click to see Annotation Detail View
Sotos syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NSD1
Accession:NM_001409307
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001365684
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409305
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409301
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409302
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409306
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409303
Location:INTRON

Gene Symbol:NSD1
Accession:NM_022455
Location:INTRON

Gene Symbol:NSD1
Accession:NM_172349
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409304
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409309
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409308
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003232173 CLINVAR
dbSNP (RS) rs1581411423 CLINVAR
MedGen C0175695 CLINVAR
NCBI Gene NSD1 CLINVAR
OMIM 117550 CLINVAR
  606681 CLINVAR
SNOMED CT 75968004 CLINVAR