rs144491437 Rat Genome Database

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Variant: rs144491437 -  Homo sapiens

RGD ID: 11622054
RS ID: rs144491437
ClinVar ID: CV335505
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 20,715,037
GRCh38 13 20,140,898
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.25147T>C
NC_000013.11:g.20140898A>G
NC_000013.10:g.20715037A>G
NM_021954.4:c.*1083T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign 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; none provided; 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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000355487 CLINVAR
  RCV004707071 CLINVAR
dbSNP (RS) rs144491437 CLINVAR
MedGen C1866078 CLINVAR
  C3661900 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR