RGD:13794748 Rat Genome Database

Variant: RGD:13794748 - Homo sapiens

RGD ID:

13794748

RS ID:

rs756794418

ClinVar ID:

CV552233

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TRMU

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	46,746,206
GRCh38	22	46,350,309

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_001269714.1:p.Ala166Glu NP_001269711.1:p.Ala52Glu NC_000022.11:g.46350309C>A NM_001282785.2:c.497C>A More...	09/01/2017	intron variant	uncertain significance	Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT

Disease Annotations Click to see Annotation Detail View

transient infantile liver failure (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TRMU
Accession:	NM_018006
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA GMATESPSDSPEDGPGLSPLL*

Gene Symbol:	TRMU
Accession:	NM_001282785
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:	TRMU
Accession:	XM_047441445
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGG LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQRE DPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:	TRMU
Accession:	XM_011530272
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSALCADPQSRWHRVG DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:	TRMU
Accession:	NM_001282782
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGG LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWV TAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:	TRMU
Accession:	XM_011530273
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQEADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSLLCSTRGTSAWAAG RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

Gene Symbol:	TRMU
Accession:	XM_047441444
Location:	INTRON

Gene Symbol:	TRMU
Accession:	NM_001282783
Location:	INTRON

Gene Symbol:	TRMU
Accession:	NM_001282784
Location:	INTRON

Gene Symbol:	TRMU
Accession:	XM_047441446
Location:	INTRON

Gene Symbol:	TRMU
Accession:	NR_104240
Location:	INTRON;NON-CODING

Gene Symbol:	TRMU
Accession:	NR_104241
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25326635	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000680132	CLINVAR
dbSNP (RS)	rs756794418	CLINVAR
MedGen	C3278664	CLINVAR
NCBI Gene	TRMU	CLINVAR
OMIM	610230	CLINVAR
	613070	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:13794748 - Homo sapiens

Imported Disease Annotations - ClinVar