RGD:404979760 Rat Genome Database

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Variant: RGD:404979760 -  Homo sapiens

RGD ID: 404979760
ClinVar ID: CV2883092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NHS  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 17,705,849
GRCh38 X 17,687,729
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001136024.4:c.35-13_35-12insG
NM_001291868.2:c.35-13_35-12insG
NM_001291867.2:c.566-13_566-12insG
NM_198270.4:c.566-13_566-12insG
More... 		12/11/2023 intron variant benign Cataract dental syndrome; Cataract X-linked with Hutchinsonian teeth; Mesiodens cataract syndrome
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2883092HumanNance-Horan syndrome  IAGP 8554872ClinVar Annotator: match by term: Nance-Horan syndromeClinVarPMID:28492532
Gene Symbol:NHS
Accession:NM_001291868
Location:INTRON

Gene Symbol:NHS
Accession:XM_011545528
Location:INTRON

Gene Symbol:NHS
Accession:NM_198270
Location:INTRON

Gene Symbol:NHS
Accession:XM_047442140
Location:INTRON

Gene Symbol:NHS
Accession:NM_001291867
Location:INTRON

Gene Symbol:NHS
Accession:NM_001136024
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003511306 CLINVAR
MedGen C0796085 CLINVAR
NCBI Gene NHS CLINVAR
OMIM 300457 CLINVAR
  302350 CLINVAR
SNOMED CT 445257004 CLINVAR