RGD:13607027 Rat Genome Database

Variant: RGD:13607027 - Homo sapiens

RGD ID:

13607027

RS ID:

rs1554258810

ClinVar ID:

CV521350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TRDN

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	123,892,191
GRCh38	6	123,571,046

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_001256021.2:c.109A>T NM_001256022.2:c.109A>T NM_001256020.2:c.109A>T NM_006073.4:c.109A>T More...	10/05/2017	missense variant	uncertain significance	Catecholamine-induced polymorphic ventricular tachycardia; Familial polymorphic ventricular tachycardia; Polymorphic catecholergic ventricular tachycardia

Disease Annotations Click to see Annotation Detail View

catecholaminergic polymorphic ventricular tachycardia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Effort-induced polymorphic ventricular tachycardia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TRDN
Accession:	NM_006073
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQASRPTPASPALEEKEGEKKKAE KKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQGTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKK EKHVEPAKSPKKEHSVPSDKQVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQIHKQDIVKPEKTVSHGKPEEK VLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPTPKGTSEVTESGKKKTEISEKESKEKADMKHLREEKVSTRK ESLQLHNVTKAEKPARVSKDVEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN SPGQKQQGQ*

Gene Symbol:	TRDN
Accession:	NM_001256021
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV QKTPSKPKEKEDKEKAAVSKHEQKGKHSEQEAAGGSKRILGKKHMQ*

Gene Symbol:	TRDN
Accession:	NM_001407315
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV QKTPSKPKEKEDKEKAAVSKHEQKGQSPAIPPPLPTEQASRPTPASPALEEKEGEKKKAEKKVTSETKKKAEKEDIKKKS EKETAIDVEKKEPGKASETKQGTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKKEKHVEPAKSPKKEHSVPSD KQVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQGKKK*

Gene Symbol:	TRDN
Accession:	NM_001256020
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV QKTPSKPKEKEDKEKAAVSKHEQKGQSPAIPPPLPTEQASRPTPASPALEGKYFFFS*

Gene Symbol:	TRDN
Accession:	NM_001251987
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQASRPTPASPALEEKEGEKKKAE KKVTSETKKKAEKEDIKKKSEKETAIDVEKKEPGKASETKQGTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEK KEKHVEPAKSPKKEHSVPSDKQVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQGKKK*

Gene Symbol:	TRDN
Accession:	NM_001256022
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	37

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVSEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT KEVGHSS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000639063	CLINVAR
dbSNP (RS)	rs1554258810	CLINVAR
MedGen	C5574922	CLINVAR
NCBI Gene	TRDN	CLINVAR
OMIM	603283	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:13607027 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13607027 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar