RGD:9683481 Rat Genome Database

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Variant: RGD:9683481 -  Homo sapiens

RGD ID: 9683481
RS ID: rs2839226
ClinVar ID: CV169633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCNT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,786,494
GRCh38 21 46,366,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.46366579C>T
NC_000021.8:g.47786494C>T
NM_001315529.2:c.2256-5C>T
NM_006031.6:c.2610-5C>T
More... 		01/13/2018 intron variant benign AllHighlyPenetrant; Microcephalic osteodysplastic primordial dwarfism type 2; Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities; MOPD 2; MOPD II; none provided; Osteodysplastic primordial dwarfism type 2; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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Gene Symbol:PCNT
Accession:NM_006031
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Gene Symbol:PCNT
Accession:NM_001315529
Location:INTRON

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Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147099 CLINVAR
  RCV000615447 CLINVAR
  RCV001618299 CLINVAR
dbSNP (RS) rs2839226 CLINVAR
MedGen C0432246 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PCNT CLINVAR
OMIM 210720 CLINVAR
  605925 CLINVAR