RGD:11622219 Rat Genome Database

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Variant: RGD:11622219 -  Homo sapiens

RGD ID: 11622219
RS ID: rs45468495
ClinVar ID: CV336653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130009662  TNFSF11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 43,148,299
GRCh38 13 42,574,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008990.1:g.16428C>T
NC_000013.11:g.42574163C>T
NC_000013.10:g.43148299C>T
NM_003701.4:c.-141C>T
More...
01/12/2018 5 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:NM_003701
Location:5UTRS;EXON

Gene Symbol:TNFSF11
Accession:NM_033012
Location:5UTRS;INTRON

Gene Symbol:TNFSF11
Accession:XM_047430707
Location:5UTRS;INTRON

Gene Symbol:TNFSF11
Accession:XM_011535280
Location:INTRON

Gene Symbol:TNFSF11
Accession:XM_017020803
Location:INTRON

Gene Symbol:TNFSF11
Accession:XM_017020802
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357406 CLINVAR
dbSNP (RS) rs45468495 CLINVAR
MedGen C1850126 CLINVAR
NCBI Gene LOC130009662 CLINVAR
  TNFSF11 CLINVAR
OMIM 259710 CLINVAR
  602642 CLINVAR