RGD:14397441 Rat Genome Database

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Variant: RGD:14397441 -  Homo sapiens

RGD ID: 14397441
RS ID: rs782413408
ClinVar ID: CV613235
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,195,571
GRCh38 X 153,930,118
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256120.2:c.559G>C
NP_001243048.1:p.Ala178Pro
NP_001243049.1:p.Ala187Pro
NM_003491.4:c.577G>C
More... 		02/17/2022 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEPCREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKRISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEPCREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEPCREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000762682 CLINVAR
dbSNP (RS) rs782413408 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR