RGD:8555757 Rat Genome Database

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Variant: RGD:8555757 -  Homo sapiens

RGD ID: 8555757
RS ID: rs1053253907
ClinVar ID: CV15712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105373608  PROC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 128,183,812
GRCh38 2 127,426,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000312.3:c.678+9C>T
NC_000002.12:g.127426236C>T
NC_000002.11:g.128183812C>T
LRG_599:g.12817C>T
More... 		03/01/2012 intron variant pathogenic|uncertain significance childhood 1-9 / 1 000 000 PROC DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LOC105373608
Accession:XR_007087228
Location:EXON;NON-CODING

Gene Symbol:PROC
Accession:XM_017004505
Location:INTRON

Gene Symbol:PROC
Accession:XM_024453003
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375604
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375608
Location:INTRON

Gene Symbol:PROC
Accession:XM_024453002
Location:INTRON

Gene Symbol:PROC
Accession:XM_047445118
Location:INTRON

Gene Symbol:PROC
Accession:NM_000312
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375602
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375607
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375603
Location:INTRON

Gene Symbol:PROC
Accession:XM_047445117
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375606
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375610
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375609
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375613
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375605
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375611
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1301954   PMID:6589623  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000708 CLINVAR
  RCV002243609 CLINVAR
dbSNP (RS) rs1053253907 CLINVAR
MedGen C0398625 CLINVAR
  C2674321 CLINVAR
NCBI Gene PROC CLINVAR
OMIM 176860 CLINVAR
  612283 CLINVAR
OMIM Allele 612283.0018 CLINVAR