RGD:15141305 Rat Genome Database

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Variant: RGD:15141305 -  Homo sapiens

RGD ID: 15141305
RS ID: rs375681915
ClinVar ID: CV744138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 70,410,650
GRCh38 6 69,700,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018368.4:c.1188+7A>T
NM_001363722.2:c.969+7A>T
NM_001367271.1:c.969+7A>T
NM_001367272.1:c.969+7A>T
More...
03/30/2018 intron variant 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; 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_018368
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367272
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001367271
Location:INTRON

Gene Symbol:LMBRD1
Accession:NM_001363722
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002065681 CLINVAR
dbSNP (RS) rs375681915 CLINVAR
MedGen C1848578 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR