RGD:14714550 Rat Genome Database

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Variant: RGD:14714550 -  Homo sapiens

RGD ID: 14714550
RS ID: rs1581429903
ClinVar ID: CV651388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 176,673,677
GRCh38 5 177,246,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_512t1:c.4379-2A>G
LRG_512:g.118598A>G
NG_009821.1:g.118598A>G
NC_000005.10:g.177246676A>G
More... 		09/24/2018 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_172349
Location:INTRON

Gene Symbol:NSD1
Accession:NM_022455
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001365684
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409301
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409304
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409302
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409305
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409308
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409306
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409309
Location:INTRON

Gene Symbol:NSD1
Accession:NM_001409303
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003232098 CLINVAR
dbSNP (RS) rs1581429903 CLINVAR
MedGen C0175695 CLINVAR
NCBI Gene NSD1 CLINVAR
OMIM 117550 CLINVAR
  606681 CLINVAR
SNOMED CT 75968004 CLINVAR