RGD:21070334 Rat Genome Database

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Variant: RGD:21070334 -  Homo sapiens

RGD ID: 21070334
RS ID: rs1570012058
ClinVar ID: CV789964
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADPRS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 36,557,395
GRCh38 1 36,091,794
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_060295.1:p.Leu162Pro
NC_000001.11:g.36091794T>C
NC_000001.10:g.36557395T>C
NM_017825.3:c.485T>C
 05/28/2019 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADPRS
Accession:XM_011541636
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVAGISPAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALAVHLALQGESSSEHFLKQLLGHMEDLEGDAQSVLDARE
LGMEERPYSSRLKKIGELLDQASVTREEVVSELGNGIAAFESVPTAIYCFLRCMEPDPEIPSAFNSLQRTLIYSISLGGD
TDTIATMAGAIAGAYYGMDQVPESWQQSCEGYEETDILAQSLHRVFQKS*

Gene Symbol:ADPRS
Accession:NM_017825
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAMAAAAGGGAGAARSLSRFRGCLAGALLGDCVGSFYEAHDTVDLTSVLRHVQSLEPDPGTPGSERTEALYYTDDTA
MARALVQSLLAKEAFDEVDMAHRFAQEYKKDPDRGYGAGVVTVFKKLLNPKCRDVFEPARAQFNGKGSYGNGGAMRVAGI
SPAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALAVHLALQGESSSEHFLKQLLGHMEDLEGDAQSVLDARELGMEER
PYSSRLKKIGELLDQASVTREEVVSELGNGIAAFESVPTAIYCFLRCMEPDPEIPSAFNSLQRTLIYSISLGGDTDTIAT
MAGAIAGAYYGMDQVPESWQQSCEGYEETDILAQSLHRVFQKS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000986287 CLINVAR
dbSNP (RS) rs1570012058 CLINVAR
MedGen C4748527 CLINVAR
NCBI Gene ADPRS CLINVAR
OMIM 610624 CLINVAR
  618170 CLINVAR