RGD:11617940 Rat Genome Database

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Variant: RGD:11617940 -  Homo sapiens

RGD ID: 11617940
RS ID: rs12721444
ClinVar ID: CV328419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFSF11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 43,181,799
GRCh38 13 42,607,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003701.4:c.*745T>C
NM_003701.3:c.*745T>C
NG_008990.1:g.49928T>C
NC_000013.11:g.42607663T>C
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Osteopetrosis osteoclast-poor; OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFSF11
Accession:XM_017020803
Location:3UTRS;EXON

Gene Symbol:TNFSF11
Accession:NM_033012
Location:3UTRS;EXON

Gene Symbol:TNFSF11
Accession:NM_003701
Location:3UTRS;EXON

Gene Symbol:TNFSF11
Accession:XM_017020802
Location:3UTRS;EXON

Gene Symbol:TNFSF11
Accession:XM_011535280
Location:3UTRS;EXON

Gene Symbol:TNFSF11
Accession:XM_047430707
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000308843 CLINVAR
dbSNP (RS) rs12721444 CLINVAR
MedGen C1850126 CLINVAR
NCBI Gene TNFSF11 CLINVAR
OMIM 259710 CLINVAR
  602642 CLINVAR