RGD:28869587 Rat Genome Database

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Variant: RGD:28869587 -  Homo sapiens

RGD ID: 28869587
RS ID: rs776133587
ClinVar ID: CV896785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMBRD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 70,386,350
GRCh38 6 69,676,458
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.69676458A>G
NC_000006.11:g.70386350A>G
NM_018368.3:c.1501T>C
NP_001350651.1:p.Phe428Leu
More... 		01/12/2018 missense 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_001367272
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICAL
LLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYE
RLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFI
LVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFF
WIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPED
QCTVTRTYLFLHKFWFFSAAYYFGNWALLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA*

Gene Symbol:LMBRD1
Accession:NM_001363722
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICAL
LLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYE
RLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFI
LVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFF
WIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPED
QCTVTRTYLFLHKFWFFSAAYYFGNWALLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA*

Gene Symbol:LMBRD1
Accession:NM_018368
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 501
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFLVSYMKNQNGT
FKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAF
VPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTED
IEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFV
ISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKI
RRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRT
YLFLHKFWFFSAAYYFGNWALLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA*

Gene Symbol:LMBRD1
Accession:NM_001367271
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICAL
LLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYE
RLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFI
LVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFF
WIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPED
QCTVTRTYLFLHKFWFFSAAYYFGNWALLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163156 CLINVAR
  RCV003163354 CLINVAR
dbSNP (RS) rs776133587 CLINVAR
MedGen C0950123 CLINVAR
  C1848578 CLINVAR
NCBI Gene LMBRD1 CLINVAR
OMIM 277380 CLINVAR
  612625 CLINVAR