RGD:28910676 Rat Genome Database

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Variant: RGD:28910676 -  Homo sapiens

RGD ID: 28910676
RS ID: rs758279877
ClinVar ID: CV896783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 70,386,024
GRCh38 6 69,676,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363722.2:c.*26A>G
NM_001367271.1:c.*26A>G
NM_001367272.1:c.*26A>G
NM_018368.4:c.*26A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:LMBRD1
Accession:NM_001367271
Location:3UTRS;EXON

Gene Symbol:LMBRD1
Accession:NM_018368
Location:3UTRS;EXON

Gene Symbol:LMBRD1
Accession:NM_001367272
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161623 CLINVAR
dbSNP (RS) rs758279877 CLINVAR
MedGen C1848578 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR