RGD:401750219 Rat Genome Database

Variant: RGD:401750219 - Homo sapiens

RGD ID:

401750219

ClinVar ID:

CV2701084

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AMZ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	2,742,505
GRCh38	7	2,702,871

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_001284355.4:c.454A>G NM_001321766.2:c.454A>G NM_001384739.1:c.454A>G NM_001384740.1:c.454A>G More...	04/25/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	AMZ1
Accession:	NM_133463
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA RKLARAESAPRPWDGEES*

Gene Symbol:	AMZ1
Accession:	NM_001284355
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPETLHLDSGGGGDVAQPGGGGAVSVGGHPACQRRLGHVL*

Gene Symbol:	AMZ1
Accession:	XM_011515151
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPGELGEPSSFSHSWELKQHLKSLSFSQREPADPEGNTETDHSWTCAASSS*

Gene Symbol:	AMZ1
Accession:	NM_001321766
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQVSWV NPVASATAGN*

Gene Symbol:	AMZ1
Accession:	XM_017011776
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKVGGGSGAGKRGQEGAV*

Gene Symbol:	AMZ1
Accession:	XM_017011774
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPGELGEPSSFSHSWELKQHLKSLSFSQREPADPEGNTETDHSWTCAASSS*

Gene Symbol:	AMZ1
Accession:	NM_001384742
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPGPGKRREALPPTMALCASLHPPTPPTRARLCVGPAGNSG*

Gene Symbol:	AMZ1
Accession:	NM_001384740
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQNVKV QRSWPLTLATLWPPCPVCSLVAVPVDTSSPSLAHSHPLVTAVRPQEELHRVLGRGAASTTVSSGSAGCVLGVCRVAVTGV PRRAPKAPAPLPGFFLYVFIR*

Gene Symbol:	AMZ1
Accession:	NM_001384741
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPELAGWLV*

Gene Symbol:	AMZ1
Accession:	NM_001384743
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA RKLARAESAPRPWDGEES*

Gene Symbol:	AMZ1
Accession:	NM_001384739
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD RGWALCFSALGMVQCCKGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYTWTQAVVGTWPSQEAGEPSVWEDT PPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGPAEAIKEHERWLAMCIQALQREVA EEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSARKLARAESAPRPWDGEES*

Gene Symbol:	AMZ1
Accession:	XM_047419926
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDGLQLHTDGI LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS HLPEEAAACPGFQAHREVPETLHLDSGGGGDVAQPGGGGAVSVGGHPACQRRLGHVL*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004309679	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	AMZ1	CLINVAR
OMIM	615168	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Variant: RGD:401750219 - Homo sapiens