RGD:11604190 Rat Genome Database

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Variant: RGD:11604190 -  Homo sapiens

RGD ID: 11604190
RS ID: rs75847296
ClinVar ID: CV308561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 70,411,448
GRCh38 6 69,701,556
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.69701556T>A
NC_000006.11:g.70411448T>A
NM_001367272.1:c.762-11A>T
NM_001367271.1:c.762-11A>T
More... 		11/11/2021 intron variant benign|likely benign AllHighlyPenetrant; COBALAMIN F DISEASE; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF; METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE; METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT; VITAMIN B12 LYSOSOMAL RELEASE DEFECT; VITAMIN B12 STORAGE DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMBRD1
Accession:NM_001363722
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_018368
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367272
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367271
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000306865 CLINVAR
  RCV000604726 CLINVAR
dbSNP (RS) rs75847296 CLINVAR
MedGen C1848578 CLINVAR
  CN169374 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR