RGD:14703404 Rat Genome Database

Variant: RGD:14703404 - Homo sapiens

RGD ID:

14703404

RS ID:

rs374750709

ClinVar ID:

CV631555

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AMT NICN1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	49,459,824
GRCh38	3	49,422,391

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
NP_001158183.1:p.Pro20= NP_001158184.1:p.Pro20= NM_032316.3:c.*2442G>A NM_001164710.2:c.60G>A More...	10/19/2022	3 prime utr variant	likely benign\|uncertain significance	Glycine encephalopathy; Nonketotic hyperglycinemia

Disease Annotations Click to see Annotation Detail View

glycine encephalopathy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Nonketotic hyperglycinemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NICN1
Accession:	NM_032316
Location:	3UTRS;EXON

Gene Symbol:	AMT
Accession:	NM_001164711
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTS EGHLYVVSNAGCWEKDLALMQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVS GCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRR RAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTML LVEVRRKQQMAVVSKMPFVPTNYYTLK*

Gene Symbol:	AMT
Accession:	NM_001164710
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQDKVRELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPF MTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGAVHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPV EGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRRVGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGY VPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYYTLK*

Gene Symbol:	AMT
Accession:	NM_000481
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKV RELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGA VHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRR VGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVEVRRKQQMAVVSKMPFVPTNYY TLK*

Gene Symbol:	AMT
Accession:	NM_001164712
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRAVSVVARLGFRLQAFPPALCRPLSCAQEVLRRTPLYDFHLAHGGKMVAFAGWSLPVQYRDSHTDSHLHTRQHCSLFD VSHMLQTKILGSDRVKLMESLVVGDIAELRPNQGTLSLFTNEAGGILDDLIVTNTSEGHLYVVSNAGCWEKDLALMQDKV RELQNQGRDVGLEVLDNALLALQGPTAAQVLQAGVADDLRKLPFMTSAVMEVFGVSGCRVTRCGYTGEDGVEISVPVAGA VHLATAILKNPEVKLAGLAARDSLRLEAGLCLYGNDIDEHTTPVEGSLSWTLGKRRRAAMDFPGAKVIVPQLKGRVQRRR VGLMCEGAPMRAHSPILNMEGTKIGTVTSGCPSPSLKKNVAMGYVPCEYSRPGTMLLVELPSGPCF*

Gene Symbol:	AMT
Accession:	NR_028435
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000807364	CLINVAR
dbSNP (RS)	rs374750709	CLINVAR
MedGen	C0751748	CLINVAR
NCBI Gene	AMT	CLINVAR
	NICN1	CLINVAR
OMIM	238310	CLINVAR
	605899	CLINVAR
	611516	CLINVAR
SNOMED CT	237939006	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)

Variant: RGD:14703404 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:14703404 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar