RGD:156444618 Rat Genome Database

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Variant: RGD:156444618 -  Homo sapiens

RGD ID: 156444618
ClinVar ID: CV1948348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  LOC130064129  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 30,205,818
GRCh38 19 29,714,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256046.3:c.-11+214C>T
NM_031448.6:c.-11+214C>T
NM_001256047.2:c.-11+652C>T
NM_001031726.4:c.-15C>T
More... 		12/20/2022 5 prime utr variant uncertain significance Spastic paraplegia 43, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C19orf12
Accession:NM_001031726
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:C19orf12
Accession:NM_001282930
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_024451735
Location:INTRON

Gene Symbol:C19orf12
Accession:XM_024451734
Location:INTRON

Gene Symbol:C19orf12
Accession:XM_047439496
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003115543 CLINVAR
MedGen C2680446 CLINVAR
NCBI Gene C19orf12 CLINVAR
  LOC130064129 CLINVAR
OMIM 614297 CLINVAR
  615043 CLINVAR