RGD:155267837 Rat Genome Database

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Variant: RGD:155267837 -  Homo sapiens

RGD ID: 155267837
ClinVar ID: CV1701395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,199,447
GRCh38 X 153,933,994
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012522.2:g.15649A>G
NG_012522.1:g.15786A>G
NC_000023.10:g.153199447T>C
NP_003482.1:p.Tyr43Cys
More... 		09/01/2022 missense variant likely pathogenic N-terminal acetyltransferase deficiency
Disease Annotations     Click to see Annotation Detail View
Ogden syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSCIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSCIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSCIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKRISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26522270  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002283620 CLINVAR
MedGen C3275447 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR
  300855 CLINVAR