rs139807684 Rat Genome Database

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Variant: rs139807684 -  Homo sapiens

RGD ID: 13810616
RS ID: rs139807684
ClinVar ID: CV562847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,543,570
GRCh38 9 130,668,183
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021619.3:c.440G>A
NM_021619.2:c.440G>A
NG_053081.1:g.8590G>A
NC_000009.12:g.130668183G>A
More... 		06/14/2024 missense variant uncertain significance HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM12
Accession:NM_021619
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLS
SLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVHYFIDASQEDHRSW
MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKS
ARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000688343 CLINVAR
  RCV002274088 CLINVAR
  RCV002331341 CLINVAR
dbSNP (RS) rs139807684 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4225308 CLINVAR
NCBI Gene PRDM12 CLINVAR
OMIM 616458 CLINVAR
  616488 CLINVAR