RGD:13462760 Rat Genome Database

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Variant: RGD:13462760 -  Homo sapiens

RGD ID: 13462760
RS ID: rs530720914
ClinVar ID: CV439256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 58,236,844
GRCh38 17 60,159,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012050.2:g.14543G>A
NC_000017.11:g.60159483G>A
NC_000017.10:g.58236844G>A
NM_000717.5:c.*59G>A
More...
02/22/2019 3 prime utr variant conflicting interpretations of pathogenicity|uncertain significance none provided; RP 17
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CA4
Accession:XM_011525183
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436650
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436654
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:NM_000717
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436652
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436656
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_005257639
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436653
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436651
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436655
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:NR_137422
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000514784 CLINVAR
  RCV001002128 CLINVAR
dbSNP (RS) rs530720914 CLINVAR
MedGen C1833245 CLINVAR
  C3661900 CLINVAR
NCBI Gene CA4 CLINVAR
OMIM 114760 CLINVAR
  600852 CLINVAR