RGD:11602162 Rat Genome Database

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Variant: RGD:11602162 -  Homo sapiens

RGD ID: 11602162
RS ID: rs369575833
ClinVar ID: CV308566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  LOC127406567  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 70,506,876
GRCh38 6 69,796,984
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.69796984T>C
NC_000006.11:g.70506876T>C
NM_018368.4:c.-103A>G
NM_018368.3:c.-103A>G
More... 		06/14/2016 5 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_018368
Location:5UTRS;EXON

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 Information

Database Acc Id Source(s)
ClinVar RCV000288685 CLINVAR
dbSNP (RS) rs369575833 CLINVAR
MedGen C1848578 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR