rs1473857064 Rat Genome Database

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Variant: rs1473857064 -  Homo sapiens

RGD ID: 28911213
RS ID: rs1473857064
ClinVar ID: CV869226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 110,034,948
GRCh38 12 109,597,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_156t1:c.*566G>C
NM_000431.4:c.*566G>C
NM_001114185.3:c.*566G>C
NM_001301182.2:c.*566G>C
More... 		01/12/2018 3 prime utr variant uncertain significance Hyperimmunoglobulinemia D; Hyperimmunoglobulinemia D and periodic fever syndrome; Hyperimmunoglobulinemia D with periodic fever; Periodic fever Dutch type
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:MVK
Accession:NM_001114185
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001414512
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001414515
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:XM_017019313
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_000431
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:XM_047428873
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001414514
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001301182
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:XM_017019314
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001414513
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NM_001414511
Location:3UTRS;EXON

Gene Symbol:MVK
Accession:NR_182760
Location:EXON;NON-CODING

Gene Symbol:MVK
Accession:NR_182762
Location:EXON;NON-CODING

Gene Symbol:MVK
Accession:NR_182759
Location:EXON;NON-CODING

Gene Symbol:MVK
Accession:NR_182758
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001110176 CLINVAR
  RCV001110177 CLINVAR
dbSNP (RS) rs1473857064 CLINVAR
MedGen C0398691 CLINVAR
  C1959626 CLINVAR
NCBI Gene MVK CLINVAR
OMIM 251170 CLINVAR
  260920 CLINVAR
  610377 CLINVAR
SNOMED CT 234538002 CLINVAR