RGD:11660793 Rat Genome Database

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Variant: RGD:11660793 -  Homo sapiens

RGD ID: 11660793
RS ID: rs886048575
ClinVar ID: CV328824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 67,228,195
GRCh38 11 67,460,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021211.1:g.10378T>G
NC_000011.10:g.67460724T>G
NC_000011.9:g.67228195T>G
NM_001300895.3:c.*2065T>G
More... 		01/12/2018 3 prime utr variant uncertain significance Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_001300895
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:XM_024448615
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_145200
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001300896
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001379183
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NR_166529
Location:EXON;NON-CODING

Gene Symbol:CABP4
Accession:XM_005274114
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000370164 CLINVAR
dbSNP (RS) rs886048575 CLINVAR
MedGen C4041558 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR
  610427 CLINVAR