RGD:11608579 Rat Genome Database

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Variant: RGD:11608579 -  Homo sapiens

RGD ID: 11608579
RS ID: rs556844112
ClinVar ID: CV317241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824059  VDR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 48,237,652
GRCh38 12 47,843,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008731.1:g.66163C>G
NC_000012.12:g.47843869G>C
NC_000012.11:g.48237652G>C
NM_001364085.2:c.*676C>G
More...
06/14/2016 3 prime utr variant uncertain significance GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D; HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; PDDR IIA; PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA; RICKETS, HEREDITARY VITAMIN D-RESISTANT; RICKETS-ALOPECIA SYNDROME; VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA; VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VDR
Accession:NM_000376
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:NM_001017535
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:NM_001017536
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:XM_024449178
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:NM_001364085
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:NM_001374662
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:NM_001374661
Location:3UTRS;EXON

Gene Symbol:VDR
Accession:XM_047429500
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357025 CLINVAR
dbSNP (RS) rs556844112 CLINVAR
MedGen C0342646 CLINVAR
NCBI Gene VDR CLINVAR
OMIM 277440 CLINVAR
  601769 CLINVAR
SNOMED CT 237894002 CLINVAR