RGD:10044747 Rat Genome Database

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Variant: RGD:10044747 -  Homo sapiens

RGD ID: 10044747
RS ID: rs775863165
ClinVar ID: CV187951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPCA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 33,354,711
GRCh38 1 32,889,110
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.32889110C>A
NC_000001.10:g.33354711C>A
NP_002134.2:p.Thr71Asn
NG_042176.1:g.8024C>A
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:XM_005270792
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRNFDTNSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*

Gene Symbol:HPCA
Accession:XM_017001118
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRNFDTNSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*

Gene Symbol:HPCA
Accession:NM_002143
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRNFDTNSDGTI
DFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNN
DGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF*
Variant Samples
Additional References at PubMed
PMID:25799108  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000170353 CLINVAR
dbSNP (RS) rs775863165 CLINVAR
MedGen C1857093 CLINVAR
NCBI Gene HPCA CLINVAR
OMIM 142622 CLINVAR
  224500 CLINVAR
OMIM Allele 142622.0002 CLINVAR