TRT-TGT2-1 (tRNA-Thr (anticodon TGT) 2-1) - Rat Genome Database

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Gene: TRT-TGT2-1 (tRNA-Thr (anticodon TGT) 2-1) Homo sapiens
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Symbol: TRT-TGT2-1
Name: tRNA-Thr (anticodon TGT) 2-1
RGD ID: 2300599
HGNC Page HGNC:34946
Description: ASSOCIATED WITH Usher syndrome
Type: trna
RefSeq Status: MODEL
Previously known as: transfer RNA-Thr (TGT) 2-1; TRNAT19
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381222,465,005 - 222,465,077 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371222,638,347 - 222,638,419 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1q41NCBI
HuRef1193,313,849 - 193,313,921 (+)NCBIHuRef
CHM1_11223,910,611 - 223,910,683 (+)NCBICHM1_1
T2T-CHM13v2.01221,698,955 - 221,699,027 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Usher syndrome  (IAGP)

References
Additional References at PubMed
PMID:18984615  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:220673535-223683512)x1 copy number loss See cases [RCV000135795] Chr1:220673535..223683512 [GRCh38]
Chr1:220846877..223871214 [GRCh37]
Chr1:218913500..221937837 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:221979950-223007060)x3 copy number gain See cases [RCV000137718] Chr1:221979950..223007060 [GRCh38]
Chr1:222153292..223180402 [GRCh37]
Chr1:220219915..221247025 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC TRT-TGT2-1 COSMIC
GTEx TRT-TGT2-1 GTEx
HGNC ID HGNC:34946 ENTREZGENE
Human Proteome Map TRT-TGT2-1 Human Proteome Map
NCBI Gene 100189378 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-07 TRT-TGT2-1  tRNA-Thr (anticodon TGT) 2-1  TRT-TGT2-1  transfer RNA-Thr (TGT) 2-1  Symbol and/or name change 5135510 APPROVED
2014-06-24 TRT-TGT2-1  transfer RNA-Thr (TGT) 2-1  TRNAT19  transfer RNA threonine 19 (anticodon UGU)  Symbol and/or name change 5135510 APPROVED