RGD:407513321 Rat Genome Database

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Variant: RGD:407513321 -  Homo sapiens

RGD ID: 407513321
ClinVar ID: CV3443276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,346,034
GRCh38 1 228,158,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020435.4:c.575C>T
NG_011838.1:g.13482C>T
NC_000001.11:g.228158333C>T
NC_000001.10:g.228346034C>T
More... 		06/17/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3443276Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004627142 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR