RGD:12843181 Rat Genome Database

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Variant: RGD:12843181 -  Homo sapiens

RGD ID: 12843181
RS ID: rs116095397
ClinVar ID: CV368700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 70,386,322
GRCh38 6 69,676,430
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.69676430C>G
NC_000006.11:g.70386322C>G
NG_016012.2:g.195187G>C
NM_018368.4:c.1509+20G>C
More... 		03/17/2021 intron variant benign|likely benign COBALAMIN F DISEASE; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF; METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE; METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT; none provided; 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_001367271
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367272
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001703662 CLINVAR
  RCV002062424 CLINVAR
dbSNP (RS) rs116095397 CLINVAR
MedGen C1848578 CLINVAR
  C3661900 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR