RGD:8692463 Rat Genome Database

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Variant: RGD:8692463 -  Homo sapiens

RGD ID: 8692463
RS ID: rs1049562
ClinVar ID: CV142432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 20,940,515
GRCh38 14 20,472,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_91t1:c.60C>T
LRG_91:g.7974C>T
NG_009631.1:g.7974C>T
NC_000014.9:g.20472356C>T
More... 		06/14/2016 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity childhood AllHighlyPenetrant; PNP deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNP
Accession:NM_000270
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVM
MQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFP
AMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSL
ITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127499 CLINVAR
  RCV000370775 CLINVAR
dbSNP (RS) rs1049562 CLINVAR
MedGen C0268125 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNP CLINVAR
OMIM 164050 CLINVAR
  613179 CLINVAR
SNOMED CT 60743005 CLINVAR