RGD:13213660 Rat Genome Database

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Variant: RGD:13213660 -  Homo sapiens

RGD ID: 13213660
RS ID: rs139145929
ClinVar ID: CV428861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARFGEF1-DT  CPA6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 68,346,383
GRCh38 8 67,434,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027682.1:g.317238C>T
NC_000008.11:g.67434148G>A
NC_000008.10:g.68346383G>A
NP_065094.3:p.Arg311Ter
More... 		05/15/2018 nonsense likely pathogenic|uncertain significance CONVULSIONS, FAMILIAL FEBRILE, 11; Seizure disorder; Seizure Disorders
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CPA6
Accession:XM_017013646
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLN
HLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVAN
FL*KHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYK
NGIPYAFAFELRDTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP*

Gene Symbol:CPA6
Accession:NM_020361
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKISYQLKVDLWQPSSISYVSEGT
VTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLI
HMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNV
DGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVANFL*KHRKHIRAY
LSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELR
DTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP*

Gene Symbol:CPA6
Accession:XM_017013647
Location:INTRON

Gene Symbol:ARFGEF1-DT
Accession:NR_136223
Location:INTRON;NON-CODING

Gene Symbol:ARFGEF1-DT
Accession:NR_136224
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000500175 CLINVAR
  RCV000705406 CLINVAR
dbSNP (RS) rs139145929 CLINVAR
MedGen C0014544 CLINVAR
  C3280734 CLINVAR
NCBI Gene 102724708 CLINVAR
  CPA6 CLINVAR
OMIM 609562 CLINVAR
  614418 CLINVAR
SNOMED CT 84757009 CLINVAR