RGD:21404888 Rat Genome Database

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Variant: RGD:21404888 -  Homo sapiens

RGD ID: 21404888
RS ID: rs761991624
ClinVar ID: CV800571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,225,947
GRCh38 11 67,458,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379183.1:c.442C>T
NP_001366112.1:p.Arg148Ter
NM_145200.5:c.757C>T
NM_001300896.3:c.442C>T
More... 		09/17/2019 non-coding transcript variant|nonsense pathogenic|likely pathogenic|uncertain significance Cone-rod degeneration; Cone/cone-rod dystrophy; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_001300896
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEML*EVDLNGDGTVDF
DEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_001300895
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEML*EVDLNGDGTVDF
DEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_001379183
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEML*EVDLNGDGTVDF
DEFVMMLSRH*

Gene Symbol:CABP4
Accession:XM_024448615
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEML*EVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_145200
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEML*EVDLNGDGTVDFDEFVMMLSRH*

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

Gene Symbol:CABP4
Accession:XM_005274114
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30718709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001075323 CLINVAR
  RCV001226380 CLINVAR
  RCV002267750 CLINVAR
dbSNP (RS) rs761991624 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
  C4085590 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 120970 CLINVAR
  608965 CLINVAR
SNOMED CT 314407005 CLINVAR