RGD:152977802 Rat Genome Database

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Variant: RGD:152977802 -  Homo sapiens

RGD ID: 152977802
RS ID: rs2148534337
ClinVar ID: CV1671596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,196,269
GRCh38 X 153,930,816
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.373G>T
NG_013220.1:g.446G>T
NG_031987.1:g.9339G>T
NC_000023.11:g.153930816C>A
More... 		05/14/2021 missense variant uncertain significance ANOP1; Microphthalmia syndromic 4; N-terminal acetyltransferase deficiency; Ogden syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYAYGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYAYGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIENFNAKYVSLHVRKRISEVEPKYYAYGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002227701 CLINVAR
dbSNP (RS) rs2148534337 CLINVAR
MedGen C0796016 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR
  300855 CLINVAR
  309800 CLINVAR