RGD:8691464 Rat Genome Database

Variant: RGD:8691464 - Homo sapiens

RGD ID:

8691464

RS ID:

rs2272938

ClinVar ID:

CV141424

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127896767 TRMU

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	46,731,736
GRCh38	22	46,335,839

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	Age of Onset	Prevalence	Trait Synonyms
NG_012173.1:g.5439G>T NC_000022.11:g.46335839G>T NC_000022.10:g.46731736G>T NP_060476.2:p.Arg25Ser More...	02/27/2019	5 prime utr variant\|missense variant\|non-coding transcript variant	benign\|likely benign	infancy	<1 / 1 000 000	AllHighlyPenetrant; Liver failure acute infantile; LIVER FAILURE, INFANTILE, TRANSIENT; none provided

Disease Annotations Click to see Annotation Detail View

transient infantile liver failure (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TRMU
Accession:	NM_001282783
Location:	5UTRS;EXON

Gene Symbol:	TRMU
Accession:	NM_001282784
Location:	5UTRS;EXON

Gene Symbol:	TRMU
Accession:	NM_001282782
Location:	5UTRS;EXON

Gene Symbol:	TRMU
Accession:	NM_001282785
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLSRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:	TRMU
Accession:	XM_011530272
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLSRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSALCADPQSRWHRVG DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:	TRMU
Accession:	NM_018006
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLSRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA GMATESPSDSPEDGPGLSPLL*

Gene Symbol:	TRMU
Accession:	XM_011530273
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLSRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSLLCSTRGTSAWAAG RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

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

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

Gene Symbol:	TRMU
Accession:	XM_047441445
Location:	INTRON

Gene Symbol:	TRMU
Accession:	XM_047441444
Location:	INTRON

Gene Symbol:	TRMU
Accession:	XM_047441446
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000173460	CLINVAR
	RCV000349987	CLINVAR
	RCV000903301	CLINVAR
dbSNP (RS)	rs2272938	CLINVAR
MedGen	C3278664	CLINVAR
	C3661900	CLINVAR
	CN169374	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:8691464 - Homo sapiens

Imported Disease Annotations - ClinVar