rs779277068 Rat Genome Database

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Variant: rs779277068 -  Homo sapiens

RGD ID: 151771189
RS ID: rs779277068
ClinVar ID: CV1410870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 133,540,060
GRCh38 9 130,664,673
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.20C>T
NG_053081.1:g.5080C>T
NC_000009.12:g.130664673C>T
NC_000009.11:g.133540060C>T
More... 		09/20/2021 missense variant uncertain significance HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM12
Accession:NM_021619
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGSVLLAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLS
SLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSW
MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKS
ARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001971198 CLINVAR
dbSNP (RS) rs779277068 CLINVAR
MedGen C4225308 CLINVAR
NCBI Gene PRDM12 CLINVAR
OMIM 616458 CLINVAR
  616488 CLINVAR