RGD:126733641 Rat Genome Database

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Variant: RGD:126733641 -  Homo sapiens

RGD ID: 126733641
RS ID: rs1941370233
ClinVar ID: CV994541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,910,957
GRCh38 11 46,889,406
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.2215+5G>A
NG_021394.1:g.34217G>A
NC_000011.10:g.46889406C>T
NC_000011.9:g.46910957C>T
 05/02/2018 intron variant uncertain significance 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_017017734
Location:INTRON

Gene Symbol:LRP4
Accession:NM_002334
Location:INTRON

Gene Symbol:LRP4
Accession:XM_011520104
Location:INTRON

Gene Symbol:LRP4
Accession:XM_011520103
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001304307 CLINVAR
dbSNP (RS) rs1941370233 CLINVAR
MedGen C1859309 CLINVAR
NCBI Gene LRP4 CLINVAR
OMIM 212780 CLINVAR
  604270 CLINVAR
  614305 CLINVAR
  616304 CLINVAR