RGD:11660134 Rat Genome Database

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Variant: RGD:11660134 -  Homo sapiens

RGD ID: 11660134
RS ID: rs886048353
ClinVar ID: CV314235
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,903,243
GRCh38 11 46,881,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_021394.1:g.41931G>A
NC_000011.10:g.46881692C>T
NC_000011.9:g.46903243C>T
NM_002334.4:c.2814+10G>A
More...
06/14/2016 intron variant uncertain significance infancy <1 / 1 000 000 Cenani syndactylism; Syndactyly Cenani Lenz type; Syndactyly type 7; SYNDACTYLY, TYPE VII
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRP4
Accession:NM_002334
Location:INTRON

Gene Symbol:LRP4
Accession:XM_011520104
Location:INTRON

Gene Symbol:LRP4
Accession:XM_011520103
Location:INTRON

Gene Symbol:LRP4
Accession:XM_017017734
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000364490 CLINVAR
dbSNP (RS) rs886048353 CLINVAR
MedGen C1859309 CLINVAR
NCBI Gene LRP4 CLINVAR
OMIM 212780 CLINVAR
  604270 CLINVAR