RGD:152041039 Rat Genome Database

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Variant: RGD:152041039 -  Homo sapiens

RGD ID: 152041039
RS ID: rs2134202766
ClinVar ID: CV1669813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,661,098
GRCh38 11 116,790,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166598.2:c.847C>T
NM_001371904.1:c.847C>T
NM_052968.5:c.847C>T
NG_015894.2:g.7039C>T
More... 		10/21/2021 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVR*RLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVR*RLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVR*RLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002224715 CLINVAR
dbSNP (RS) rs2134202766 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene APOA5 CLINVAR
OMIM 606368 CLINVAR