RGD:11631277 Rat Genome Database

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Variant: RGD:11631277 -  Homo sapiens

RGD ID: 11631277
RS ID: rs372423531
ClinVar ID: CV346629
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 58,236,863
GRCh38 17 60,159,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.60159502T>C
NC_000017.10:g.58236863T>C
NM_000717.3:c.*78T>C
NG_012050.2:g.14562T>C
More...
06/14/2016 3 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CA4
Accession:XM_005257639
Location:3UTRS;EXON

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

Gene Symbol:CA4
Accession:XM_011525183
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000372209 CLINVAR
dbSNP (RS) rs372423531 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CA4 CLINVAR
OMIM 114760 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR