RGD:156287068 Rat Genome Database

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Variant: RGD:156287068 - Homo sapiens

RGD ID:

156287068

ClinVar ID:

CV2229584

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SEC13

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	10,345,842
GRCh38	3	10,304,158

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001136232.3:c.681C>G NM_183352.3:c.723C>G NM_030673.4:c.732C>G NM_001136026.3:c.861C>G More...	08/04/2021	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	SEC13
Accession:	XM_047448688
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWCVPLELLCSHPLPLSAFLKSQVKLYTYRACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSD RSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPH DYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLW KEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITA NILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	NM_001136026
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWCVPLELLCSHPLPLSAFLKSQVKLYTYRACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSD RSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPH DYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLW KEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITA NILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_047448698
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASC SYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVS WAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQD GRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	XM_047448692
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASC SYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVS WAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQD GRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEG QQNEQ*

Gene Symbol:	SEC13
Accession:	NM_030673
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASC SYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVS WAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQD GRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEG QQNEQ*

Gene Symbol:	SEC13
Accession:	NM_001136232
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWE KSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQ KPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWS PKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_047448693
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASC SYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVS WAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQD GRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEG QQNEQ*

Gene Symbol:	SEC13
Accession:	NM_183352
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	241

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYD RKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAP AVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRV LIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQN EQ*

Gene Symbol:	SEC13
Accession:	XM_047448691
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQ VAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEV KKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAP SIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISD VNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_047448689
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWCVPLELLCSHPLPLSAFLKSQVKLYTYRACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSD RSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPH DYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLW KEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITA NILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	XM_047448697
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWCVPLELLCSHPLPLSAFLKSQVKLYTYRACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSD RSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPH DYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLW KEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITA NILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	XM_047448687
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWCVPLELLCSHPLPLSAFLKSQVKLYTYRACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSD RSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPH DYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLW KEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITA NILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_047448695
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWE KSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQ KPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWS PKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_047448694
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYDRKVIIWREENGTWE KSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQ KPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRVLIWTCDDASSNTWS PKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISDVNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_017007020
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQ VAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEV KKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAP SIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	XM_047448696
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASC SYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVS WAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQD GRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	XM_047448690
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MREPVLTWACAGKDEMGKMVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQ VAWAHPMYGNILASCSYDRKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEV KKINNAHTIGCNAVSWAPAVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAP SIGLPTSTIASCSQDGRVLIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKVTLWKESVDGQWVCISD VNKGQGSVSASVTEGQQNEQ*

Gene Symbol:	SEC13
Accession:	XM_017007021
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	241

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSVINTVDTSHEDMIHDAQMDYYGTRLATCSSDRSVKIFDVRNGGQILIADLRGHEGPVWQVAWAHPMYGNILASCSYD RKVIIWREENGTWEKSHEHAGHDSSVNSVCWAPHDYGLILACGSSDGAISLLTYTGEGQWEVKKINNAHTIGCNAVSWAP AVVPGSLIDHPSGQKPNYIKRFASGGCDNLIKLWKEEEDGQWKEEQKLEAHSDWVRDVAWAPSIGLPTSTIASCSQDGRV LIWTCDDASSNTWSPKLLHKFNDVVWHVSWSITANILAVSGGDNKEELQMQPQIDHLP*

Gene Symbol:	SEC13
Accession:	NM_001278946
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004103403	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SEC13	CLINVAR
OMIM	600152	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156287068 - Homo sapiens