rs767622377 Rat Genome Database

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Variant: rs767622377 -  Homo sapiens

RGD ID: 11631387
RS ID: rs767622377
ClinVar ID: CV349631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  LOC130064129  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 30,205,908
GRCh38 19 29,715,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NM_001031726.3:c.-72G>T
NC_000019.10:g.29715001C>A
NC_000019.9:g.30205908C>A
NM_001031726.4:c.-105G>T
More... 		01/13/2018 5 prime utr variant uncertain significance adolescent 1-9 / 1 000 000 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV349631Humanneurodegeneration with brain iron accumulation 4  IAGP 8554872ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4ClinVarPMID:25741868
Gene Symbol:C19orf12
Accession:NM_001031726
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282929
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282930
Location:5UTRS;INTRON

Gene Symbol:C19orf12
Accession:NM_031448
Location:5UTRS;INTRON

Gene Symbol:C19orf12
Accession:NM_001256047
Location:5UTRS;INTRON

Gene Symbol:C19orf12
Accession:NM_001282931
Location:5UTRS;INTRON

Gene Symbol:C19orf12
Accession:NM_001256046
Location:5UTRS;INTRON

Gene Symbol:C19orf12
Accession:XM_047439497
Location:INTRON

Gene Symbol:C19orf12
Accession:XM_024451734
Location:INTRON

Gene Symbol:C19orf12
Accession:XM_024451735
Location:INTRON

Gene Symbol:C19orf12
Accession:XM_047439496
Location:INTRON

.
PMID:25741868  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000376520 CLINVAR
  RCV004694430 CLINVAR
dbSNP (RS) rs767622377 CLINVAR
MedGen C3280371 CLINVAR
  C3661900 CLINVAR
NCBI Gene C19orf12 CLINVAR
  LOC130064129 CLINVAR
OMIM 614297 CLINVAR
  614298 CLINVAR
1 to 9 of 9 rows