RGD:13526928 Rat Genome Database

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Variant: RGD:13526928 -  Homo sapiens

RGD ID: 13526928
RS ID: rs116345590
ClinVar ID: CV507608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD320  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 8,370,051
GRCh38 19 8,305,167
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.8190C>T
NC_000019.9:g.8370051G>A
NC_000019.10:g.8305167G>A
NM_001165895.2:c.143-1079C>T
More... 		09/07/2021 intron variant benign|likely benign AllHighlyPenetrant; METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD320
Accession:NM_016579
Location:INTRON

Gene Symbol:CD320
Accession:NM_001165895
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604784 CLINVAR
  RCV002065261 CLINVAR
dbSNP (RS) rs116345590 CLINVAR
MedGen C4749905 CLINVAR
  CN169374 CLINVAR
NCBI Gene CD320 CLINVAR
OMIM 606475 CLINVAR
  613646 CLINVAR