RGD:407428289 Rat Genome Database

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Variant: RGD:407428289 -  Homo sapiens

RGD ID: 407428289
ClinVar ID: CV3412459
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,717,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016399.1:g.22852C>A
NC_000013.11:g.20143193G>T
NC_000013.10:g.20717332G>T
NP_068773.2:p.Phe32Leu
More... 		01/21/2023 missense variant likely pathogenic CATARACT 14, COPPOCK-LIKE; CATARACT 14, EMBRYONAL NUCLEAR; CATARACT 14, NUCLEAR CORALLIFORM; CATARACT 14, NUCLEAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR; CATARACT 14, ZONULAR PULVERULENT; Zonular pulverulent cataract 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:14627959   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004593597 CLINVAR
MedGen C1866078 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR