RGD:407474938 Rat Genome Database

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Variant: RGD:407474938 -  Homo sapiens

RGD ID: 407474938
ClinVar ID: CV3042727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMTC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 88,560,259
GRCh38 12 88,166,482
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NR_159381.1:n.1159A>G
NP_001353509.1:p.Asp228Gly
NP_001353508.1:p.Asp244Gly
NP_001353503.1:p.Asp257Gly
More... 		02/05/2024 missense variant likely pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3042727Humanlissencephaly 8  IAGP 8554872ClinVar Annotator: match by term: Lissencephaly 8ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV004690460 CLINVAR
MedGen C4310646 CLINVAR
NCBI Gene TMTC3 CLINVAR
OMIM 617218 CLINVAR
  617255 CLINVAR