rs1129852 Rat Genome Database

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Variant: rs1129852 -  Homo sapiens

RGD ID: 11629869
RS ID: rs1129852
ClinVar ID: CV348507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 30,192,400
GRCh38 19 29,701,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000019.10:g.29701493G>A
NC_000019.9:g.30192400G>A
NM_001282929.1:c.*1219C>T
NG_031970.2:g.19297C>T
More... 		01/13/2018 3 prime utr variant benign adolescent 1-9 / 1 000 000 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C19orf12
Accession:XM_024451734
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:C19orf12
Accession:NM_001282931
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_001256047
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000335671 CLINVAR
  RCV004717237 CLINVAR
dbSNP (RS) rs1129852 CLINVAR
MedGen C3280371 CLINVAR
  C3661900 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  614298 CLINVAR