rs886050019 Rat Genome Database

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Variant: rs886050019 -  Homo sapiens

RGD ID: 11664405
RS ID: rs886050019
ClinVar ID: CV327541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  LOC127825850  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,716,019
GRCh38 13 20,141,880
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.24165G>A
NC_000013.11:g.20141880C>T
NC_000013.10:g.20716019C>T
NM_021954.3:c.*101G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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 Transcripts
Gene Symbol:GJA3
Accession:NM_021954
Location:3UTRS;EXON

Gene Symbol:GJA3
Accession:XM_011535048
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000405223 CLINVAR
dbSNP (RS) rs886050019 CLINVAR
MedGen C1866078 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR