RGD:11605369 Rat Genome Database

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Variant: RGD:11605369 -  Homo sapiens

RGD ID: 11605369
RS ID: rs11227798
ClinVar ID: CV314866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 67,227,987
GRCh38 11 67,460,516
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.10170T>C
NC_000011.10:g.67460516T>C
NC_000011.9:g.67227987T>C
NM_001300895.3:c.*1857T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign 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_145200
Location:3UTRS;EXON

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

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

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

Gene Symbol:CABP4
Accession:NM_001300895
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 RCV000318726 CLINVAR
dbSNP (RS) rs11227798 CLINVAR
MedGen C4041558 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR
  610427 CLINVAR