RGD:11598161 Rat Genome Database

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Variant: RGD:11598161 -  Homo sapiens

RGD ID: 11598161
RS ID: rs113958713
ClinVar ID: CV288162
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GGCX  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 85,775,092
GRCh38 2 85,547,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011811.2:g.18566G>T
NC_000002.12:g.85547969C>A
NC_000002.11:g.85775092C>A
NM_000821.5:c.*1965G>T
More... 		01/13/2018 3 prime utr variant benign|likely benign FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III; FMFD III; GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF; MULTIPLE COAGULATION FACTOR DEFICIENCY III; VITAMIN K-DEPENDENT COAGULATION DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GGCX
Accession:NM_000821
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:XM_005264259
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:XM_017003803
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:NM_001142269
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:XM_047443919
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:NM_001311312
Location:INTRON

Gene Symbol:GGCX
Accession:XM_047443920
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000402150 CLINVAR
dbSNP (RS) rs113958713 CLINVAR
MedGen C1848534 CLINVAR
NCBI Gene GGCX CLINVAR
OMIM 137167 CLINVAR
  277450 CLINVAR