RGD:596923568 Rat Genome Database

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Variant: RGD:596923568 -  Homo sapiens

RGD ID: 596923568
ClinVar ID: CV3536140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 30,193,743
GRCh38 19 29,702,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001256046.3:c.290+12G>A
NM_001031726.4:c.302G>A
NM_001256047.2:c.302G>A
NM_031448.6:c.302G>A
More... 		05/06/2021 intron variant pathogenic MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3536140Humanneurodegeneration with brain iron accumulation 4  IAGP 8554872ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4ClinVarPMID:25741868 more ...
Gene Symbol:C19orf12
Accession:NM_001031726
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_031448
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451735
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282931
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439497
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282929
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256047
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451734
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439496
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282930
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE*TDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256046
Location:INTRON

.
PMID:25741868   PMID:31087512   PMID:33134513  



Database
Acc Id
Source(s)
ClinVar RCV004788570 CLINVAR
MedGen C3280371 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  614298 CLINVAR