rs113415246 Rat Genome Database

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Variant: rs113415246 -  Homo sapiens

RGD ID: 11624704
RS ID: rs113415246
ClinVar ID: CV333034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 30,193,119
GRCh38 19 29,702,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NC_000019.10:g.29702212C>T
NC_000019.9:g.30193119C>T
NM_001282929.1:c.*500G>A
NM_031448.6:c.*500G>A
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance adolescent 1-9 / 1 000 000 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV333034Humanneurodegeneration with brain iron accumulation 4  IAGP 8554872ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4ClinVar 
Gene Symbol:C19orf12
Accession:NM_001282931
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001256046
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:XM_024451734
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001031726
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:XM_047439496
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:XM_047439497
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_031448
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282929
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:XM_024451735
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282930
Location:3UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001256047
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV000389768 CLINVAR
dbSNP (RS) rs113415246 CLINVAR
MedGen C3280371 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  614298 CLINVAR