RGD:329354995 Rat Genome Database

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Variant: RGD:329354995 -  Homo sapiens

RGD ID: 329354995
ClinVar ID: CV2433799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,661,397
GRCh38 11 116,790,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_443200.2:p.His183Leu
NG_015894.2:g.6740A>T
NC_000011.9:g.116661397T>A
NM_052968.4:c.548A>T
More... 		12/11/2022 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHLTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHLTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRVVGEDTKA
QLLGGVDEAWALLQGLQSRVVHLTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003177591 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene APOA5 CLINVAR
OMIM 606368 CLINVAR