RGD:156371735 Rat Genome Database

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Variant: RGD:156371735 -  Homo sapiens

RGD ID: 156371735
ClinVar ID: CV2031175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,195,529
GRCh38 X 153,930,076
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256119.2:c.574G>C
NM_001256120.2:c.601G>C
NM_003491.4:c.619G>C
NG_031987.1:g.10079G>C
More... 		09/27/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGRDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGRDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKRISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEACREEKGLAAEDSGRDSKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002721569 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR