RGD:12913180 Rat Genome Database

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Variant: RGD:12913180 -  Homo sapiens

RGD ID: 12913180
RS ID: rs377236965
ClinVar ID: CV422305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD320  LOC127890350  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 8,368,964
GRCh38 19 8,304,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028124.1:g.9277C>T
NC_000019.10:g.8304080G>A
NC_000019.9:g.8368964G>A
NP_057663.1:p.Pro93Ser
More... 		10/01/2023 missense variant uncertain significance METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD320
Accession:NM_001165895
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGIESCTQKGQCPPPPGLPCPCTGVSDCSGGTDK
KLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPP
VTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP
*

Gene Symbol:CD320
Accession:NM_016579
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPLTWRCDRDLDC
SDGSDEEECRIESCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPD
SSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSA
SLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000493491 CLINVAR
  RCV001856965 CLINVAR
  RCV002527081 CLINVAR
dbSNP (RS) rs377236965 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4749905 CLINVAR
NCBI Gene CD320 CLINVAR
OMIM 606475 CLINVAR
  613646 CLINVAR