RGD:10045036 Rat Genome Database

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Variant: RGD:10045036 -  Homo sapiens

RGD ID: 10045036
RS ID: rs786205852
ClinVar ID: CV188767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,222,975
GRCh38 11 67,455,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_021211.1:g.5158_5159insA
NC_000011.10:g.67455504_67455505insA
NC_000011.9:g.67222975_67222976insA
NM_145200.2:c.81_82insA
More... 		04/14/2020 5 prime utr variant|intron variant pathogenic neonatal/infancy Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_001300895
Location:5UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001379183
Location:5UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001300896
Location:5UTRS;INTRON

Gene Symbol:CABP4
Accession:XM_024448615
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_145200
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:XM_005274114
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSWSPHTIYFTGEDRKVQRISEEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGE
QTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEE
FDTDRDGYISHRELGDCMRTLGYMPTEMELLEWAAVWTLRSL*

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

Variant Samples
Additional References at PubMed
PMID:20157620   PMID:23099293  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000171133 CLINVAR
  RCV001557083 CLINVAR
dbSNP (RS) rs786205852 CLINVAR
MedGen C4041558 CLINVAR
  CN517202 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR
  610427 CLINVAR
OMIM Allele 608965.0004 CLINVAR