RGD:15182600 Rat Genome Database

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Variant: RGD:15182600 -  Homo sapiens

RGD ID: 15182600
RS ID: rs770541308
ClinVar ID: CV744511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,897,345
GRCh38 11 46,875,794
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002334.4:c.3699+10G>A
NG_021394.1:g.47829G>A
NC_000011.10:g.46875794C>T
NC_000011.9:g.46897345C>T
More... 		05/16/2018 intron variant likely benign Cenani syndactylism; Congenital myasthenic syndrome 17; Sclerosteosis 2; 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:XM_011520104
Location:INTRON

Gene Symbol:LRP4
Accession:NM_002334
Location:INTRON

Gene Symbol:LRP4
Accession:XM_011520103
Location:INTRON

Gene Symbol:LRP4
Accession:XM_017017734
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002540768 CLINVAR
dbSNP (RS) rs770541308 CLINVAR
MedGen C1859309 CLINVAR
NCBI Gene LRP4 CLINVAR
OMIM 212780 CLINVAR
  604270 CLINVAR
  614305 CLINVAR
  616304 CLINVAR