TRF-GAA1-1 (tRNA-Phe (anticodon GAA) 1-1) - Rat Genome Database

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Gene: TRF-GAA1-1 (tRNA-Phe (anticodon GAA) 1-1) Homo sapiens
Analyze
Symbol: TRF-GAA1-1
Name: tRNA-Phe (anticodon GAA) 1-1
RGD ID: 2300840
HGNC Page HGNC:34699
Description:
Type: trna
RefSeq Status: MODEL
Previously known as: transfer RNA-Phe (GAA) 1-1; TRF-GAA1-5; tRNA-Phe (GAA) 1-1; TRNAF3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38628,790,722 - 28,790,794 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37628,758,499 - 28,758,571 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6p22.1NCBI
HuRef628,566,357 - 28,566,429 (-)NCBIHuRef
CHM1_1628,760,741 - 28,760,813 (-)NCBICHM1_1
T2T-CHM13v2.0628,665,492 - 28,665,564 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:18984615  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.1(chr6:28669195-28873863)x3 copy number gain See cases [RCV000136746] Chr6:28669195..28873863 [GRCh38]
Chr6:28636972..28841640 [GRCh37]
Chr6:28744951..28949619 [NCBI36]
Chr6:6p22.1
benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3 copy number gain See cases [RCV000141858] Chr6:28763187..29769828 [GRCh38]
Chr6:28730964..29737605 [GRCh37]
Chr6:28838943..29845584 [NCBI36]
Chr6:6p22.1
uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC TRF-GAA1-1 COSMIC
GTEx TRF-GAA1-1 GTEx
HGNC ID HGNC:34699 ENTREZGENE
Human Proteome Map TRF-GAA1-1 Human Proteome Map
NCBI Gene 100189137 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 TRF-GAA1-1  tRNA-Phe (anticodon GAA) 1-1    tRNA-Phe (GAA) 1-1  Symbol and/or name change 5135510 APPROVED
2018-11-29 TRF-GAA1-1  tRNA-Phe (GAA) 1-1    transfer RNA-Phe (GAA) 1-1  Symbol and/or name change 5135510 APPROVED
2016-02-29 TRF-GAA1-1  transfer RNA-Phe (GAA) 1-1  TRF-GAA1-5  transfer RNA-Phe (GAA) 1-5  Symbol and/or name change 5135510 APPROVED
2014-06-24 TRF-GAA1-5  transfer RNA-Phe (GAA) 1-5  TRNAF3  transfer RNA phenylalanine 3 (anticodon GAA)  Symbol and/or name change 5135510 APPROVED