RGD:10044286 Rat Genome Database

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Variant: RGD:10044286 -  Homo sapiens

RGD ID: 10044286
RS ID: rs786205675
ClinVar ID: CV187950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPCA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 33,354,724
GRCh38 1 32,889,123
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000001.11:g.32889123C>A
NC_000001.10:g.33354724C>A
NG_042176.1:g.8037C>A
NP_002134.2:p.Asn75Lys
More... 		05/07/2015 missense variant pathogenic childhood Dystonia 2, torsion, autosomal recessive; Dystonia musculorum deformans type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPCA
Accession:NM_002143
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTKSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*

Gene Symbol:HPCA
Accession:XM_017001118
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTKSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*

Gene Symbol:HPCA
Accession:XM_005270792
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTKSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*
Variant Samples
Additional References at PubMed
PMID:6115727   PMID:14694054   PMID:25799108  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000170352 CLINVAR
dbSNP (RS) rs786205675 CLINVAR
MedGen C1857093 CLINVAR
NCBI Gene HPCA CLINVAR
OMIM 142622 CLINVAR
  224500 CLINVAR
OMIM Allele 142622.0001 CLINVAR