RGD:11550461 Rat Genome Database

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Variant: RGD:11550461 -  Homo sapiens

RGD ID: 11550461
RS ID: rs2305837
ClinVar ID: CV252452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 70,423,739
GRCh38 6 69,713,847
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.69713847A>G
NC_000006.11:g.70423739A>G
NM_018368.4:c.763-50T>C
LRG_1310t1:c.763-50T>C
More... 		06/29/2018 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:LMBRD1
Accession:NM_001367271
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_018368
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367272
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001363722
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251785 CLINVAR
  RCV001675746 CLINVAR
dbSNP (RS) rs2305837 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 612625 CLINVAR