RGD:156161097 Rat Genome Database

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Variant: RGD:156161097 -  Homo sapiens

RGD ID: 156161097
ClinVar ID: CV2398240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVP-DT  PAGR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 29,827,878
GRCh38 16 29,816,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024516.4:c.32C>T
NG_032039.2:g.9366C>T
NG_032039.1:g.9470C>T
NC_000016.10:g.29816557C>T
More... 		06/09/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAGR1
Accession:NM_024516
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLARGHGDTVASTAAPLSEEGEVTSGLQALAVEDTGGPSASAGKAEDEGEGGREETEREGSGGEEAQGEVPSAGGEEPA
EEDSEDWCVPCSDEEVELPADGQPWMPPPSEIQRLYELLAAHGTLELQAEILPRRPPTPEAQSEEERSDEEPEAKEEEEE
KPHMPTEFDFDDEPVTPKDSLIDRRRTPGSSARSQKREARLDKVLSDMKRHKKLEEQILRTGRDLFSLDSEDPSPASPPL
RSSGSSLFPRQRKY*

Gene Symbol:MVP-DT
Accession:NR_186424
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002764720 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MVP-DT CLINVAR
  PAGR1 CLINVAR
OMIM 612033 CLINVAR