RGD:155730802 Rat Genome Database

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Variant: RGD:155730802 -  Homo sapiens

RGD ID: 155730802
ClinVar ID: CV1825848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816330  PRDM12  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 133,556,951
GRCh38 9 130,681,564
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.999C>G
NG_053081.1:g.21971C>G
NC_000009.12:g.130681564C>G
NC_000009.11:g.133556951C>G
More... 		12/03/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM12
Accession:NM_021619
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLS
SLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSW
MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKS
ARHRPPSTALQAQSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002383065 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRDM12 CLINVAR
OMIM 616458 CLINVAR