RGD:13829458 Rat Genome Database

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Variant: RGD:13829458 -  Homo sapiens

RGD ID: 13829458
RS ID: rs1557733311
ClinVar ID: CV581241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADPRS  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 36,556,868
GRCh38 1 36,091,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017825.3:c.235A>C
NC_000001.11:g.36091267A>C
NC_000001.10:g.36556868A>C
NP_060295.1:p.Thr79Pro
More... 		09/30/2020 missense variant pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADPRS
Accession:XM_011541636
Location:5UTRS;INTRON

Gene Symbol:ADPRS
Accession:NM_017825
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAMAAAAGGGAGAARSLSRFRGCLAGALLGDCVGSFYEAHDTVDLTSVLRHVQSLEPDPGTPGSERTEALYYTDDPA
MARALVQSLLAKEAFDEVDMAHRFAQEYKKDPDRGYGAGVVTVFKKLLNPKCRDVFEPARAQFNGKGSYGNGGAMRVAGI
SLAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALAVHLALQGESSSEHFLKQLLGHMEDLEGDAQSVLDARELGMEER
PYSSRLKKIGELLDQASVTREEVVSELGNGIAAFESVPTAIYCFLRCMEPDPEIPSAFNSLQRTLIYSISLGGDTDTIAT
MAGAIAGAYYGMDQVPESWQQSCEGYEETDILAQSLHRVFQKS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30100084  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000721141 CLINVAR
dbSNP (RS) rs1557733311 CLINVAR
MedGen C4748527 CLINVAR
NCBI Gene ADPRHL2 CLINVAR
OMIM 610624 CLINVAR
  618170 CLINVAR
OMIM Allele 610624.0003 CLINVAR