RGD:9683559 Rat Genome Database

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Variant: RGD:9683559 -  Homo sapiens

RGD ID: 9683559
RS ID: rs114224027
ClinVar ID: CV169620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCNT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,766,154
GRCh38 21 46,346,240
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.46346240C>T
NC_000021.8:g.47766154C>T
NM_006031.5:c.720+32C>T
NG_008961.1:g.27119C>T
More... 		intron variant likely benign AllHighlyPenetrant

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000147194 CLINVAR
dbSNP (RS) rs114224027 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCNT CLINVAR
OMIM 605925 CLINVAR