RGD:11588220 Rat Genome Database

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Variant: RGD:11588220 -  Homo sapiens

RGD ID: 11588220
RS ID: rs572084939
ClinVar ID: CV288160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GGCX  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 85,774,773
GRCh38 2 85,547,650
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.18885C>G
NC_000002.12:g.85547650G>C
NC_000002.11:g.85774773G>C
NM_000821.5:c.*2284C>G
More... 		06/14/2016 3 prime utr variant uncertain significance 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:XM_047443919
Location:3UTRS;EXON

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

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

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

Gene Symbol:GGCX
Accession:NM_000821
Location:3UTRS;EXON

Gene Symbol:GGCX
Accession:XM_047443920
Location:INTRON

Gene Symbol:GGCX
Accession:NM_001311312
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301164 CLINVAR
dbSNP (RS) rs572084939 CLINVAR
MedGen C1848534 CLINVAR
NCBI Gene GGCX CLINVAR
OMIM 137167 CLINVAR
  277450 CLINVAR