RGD:12846095 Rat Genome Database

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Variant: RGD:12846095 -  Homo sapiens

RGD ID: 12846095
RS ID: rs2232787
ClinVar ID: CV378168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD320  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 8,367,356
GRCh38 19 8,302,472
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.10885G>A
NC_000019.10:g.8302472C>T
NC_000019.9:g.8367356C>T
NP_057663.1:p.Ser280=
More... 		11/26/2018 synonymous variant benign|likely benign 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_016579
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPLTWRCDRDLDC
SDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPD
SSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSA
SLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP*

Gene Symbol:CD320
Accession:NM_001165895
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDK
KLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPP
VTLESVPSVGNATSSSAGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTSLP
*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958756 CLINVAR
  RCV001521795 CLINVAR
dbSNP (RS) rs2232787 CLINVAR
MedGen C3661900 CLINVAR
  C4749905 CLINVAR
NCBI Gene CD320 CLINVAR
OMIM 606475 CLINVAR
  613646 CLINVAR