RGD:401935950 Rat Genome Database

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Variant: RGD:401935950 -  Homo sapiens

RGD ID: 401935950
ClinVar ID: CV2818215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAPA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 9,945,016
GRCh38 18 9,945,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_194434.3:c.418-5376C>T
NM_003574.6:c.513C>T
NC_000018.10:g.9945019C>T
NC_000018.9:g.9945016C>T
More... 		09/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VAPA
Accession:NM_003574
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASGAMAKHEQILVLDPPTDLKFKGPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVML
QPFDYDPNEKSKHKFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTV
ATPASYHTKDDPRGLSVLKQEKQKNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECKRLQGEMMKLSEENRH
LRDEGLRLRKVAHSDKPGSTSTASFRDNVTSPLPSLLVVIAAIFIGFFLGKFIL*

Gene Symbol:VAPA
Accession:XM_047437929
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQSKYSKMFIVECPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKH
KFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTVATPASYHTKDDPR
GLSVLKQEKQKNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECKRLQGEMMKLSEENRHLRDEGLRLRKVAH
SDKPGSTSTASFRDNVTSPLPSLLVVIAAIFIGFFLGKFIL*

Gene Symbol:VAPA
Accession:XM_047437930
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQSKYSKMFIVECPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKH
KFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTVATPASYHTKDDPR
GLSVLKQEKQKNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECKRLQGEMMKLSEENRHLRDEGLRLRKVAH
SDKPGSTSTASFRDNVTSPLPSLLVVIAAIFIGFFLGKFIL*

Gene Symbol:VAPA
Accession:XM_047437928
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQSKYSKMFIVECPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKH
KFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTVATPASYHTKDDPR
GLSVLKQEKQKNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECKRLQGEMMKLSEENRHLRDEGLRLRKVAH
SDKPGSTSTASFRDNVTSPLPSLLVVIAAIFIGFFLGKFIL*

Gene Symbol:VAPA
Accession:XM_047437931
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQSKYSKMFIVECPFTDVVTTNLKLRNPSDRKVCFKVKTTAPRRYCVRPNSGIIDPGSTVTVSVMLQPFDYDPNEKSKH
KFMVQTIFAPPNTSDMEAVWKEAKPDELMDSKLRCVFEMPNENDKLGITPPGNAPTVTSMSSINNTVATPASYHTKDDPR
GLSVLKQEKQKNDMEPSKAVPLNASKQDGPMPKPHSVSLNDTETRKLMEECKRLQGEMMKLSEENRHLRDEGLRLRKVAH
SDKPGSTSTASFRDNVTSPLPSLLVVIAAIFIGFFLGKFIL*

Gene Symbol:VAPA
Accession:NM_194434
Location:INTRON

Gene Symbol:VAPA
Accession:XM_017026079
Location:INTRON

Gene Symbol:VAPA
Accession:XM_047437932
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003413414 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene VAPA CLINVAR
OMIM 605703 CLINVAR