RGD:28877191 Rat Genome Database

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Variant: RGD:28877191 -  Homo sapiens

RGD ID: 28877191
RS ID: rs546314105
ClinVar ID: CV881036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105373608  PROC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 128,186,594
GRCh38 2 127,429,018
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375607.1:c.*72C>A
NM_001375608.1:c.*72C>A
LRG_599t1:c.*72C>A
NM_000312.4:c.*72C>A
More... 		01/13/2018 3 prime utr variant uncertain significance PROC DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PROC
Accession:XM_024453003
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375609
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:XM_047445118
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375613
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375606
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:XM_047445117
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375604
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375608
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375602
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375607
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:XM_024453002
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375610
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375605
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:XM_017004505
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375603
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_001375611
Location:3UTRS;EXON

Gene Symbol:PROC
Accession:NM_000312
Location:3UTRS;EXON

Gene Symbol:LOC105373608
Accession:XR_007087228
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001134699 CLINVAR
dbSNP (RS) rs546314105 CLINVAR
MedGen C2674321 CLINVAR
NCBI Gene PROC CLINVAR
OMIM 176860 CLINVAR
  612283 CLINVAR