TRV-CAC1-5 (tRNA-Val (anticodon CAC) 1-5) - Rat Genome Database

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Gene: TRV-CAC1-5 (tRNA-Val (anticodon CAC) 1-5) Homo sapiens
Analyze
Symbol: TRV-CAC1-5
Name: tRNA-Val (anticodon CAC) 1-5
RGD ID: 1642404
HGNC Page HGNC:33245
Description:
Type: trna
RefSeq Status: MODEL
Previously known as: transfer RNA-Val (CAC) 1-5; TRNAV6; TRV6
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385181,222,395 - 181,222,467 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375180,649,395 - 180,649,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map5q35.3NCBI
HuRef5175,376,503 - 175,376,575 (-)NCBIHuRef
CHM1_15180,080,337 - 180,080,409 (-)NCBICHM1_1
T2T-CHM13v2.05181,782,347 - 181,782,419 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:2766931   PMID:18984615  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3 copy number gain See cases [RCV000136903] Chr5:180636182..181269805 [GRCh38]
Chr5:180063182..180696806 [GRCh37]
Chr5:179995788..180629412 [NCBI36]
Chr5:5q35.3		 uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:181125345-181238978)x3 copy number gain See cases [RCV000141545] Chr5:181125345..181238978 [GRCh38]
Chr5:180552345..180665978 [GRCh37]
Chr5:180484951..180598584 [NCBI36]
Chr5:5q35.3		 uncertain significance
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3 copy number gain See cases [RCV000142298] Chr5:178235909..181292788 [GRCh38]
Chr5:177662910..180719789 [GRCh37]
Chr5:177595516..180652395 [NCBI36]
Chr5:5q35.3		 likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3 copy number gain See cases [RCV000051205] Chr5:178529878..181269805 [GRCh38]
Chr5:177956879..180696806 [GRCh37]
Chr5:177889485..180629412 [NCBI36]
Chr5:5q35.3		 uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC TRV-CAC1-5 COSMIC
GTEx TRV-CAC1-5 GTEx
HGNC ID HGNC:33245 ENTREZGENE
Human Proteome Map TRV-CAC1-5 Human Proteome Map
NCBI Gene 100049614 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-07 TRV-CAC1-5  tRNA-Val (anticodon CAC) 1-5  TRV-CAC1-5  transfer RNA-Val (CAC) 1-5  Symbol and/or name change 5135510 APPROVED
2014-06-24 TRV-CAC1-5  transfer RNA-Val (CAC) 1-5  TRNAV6  transfer RNA valine 6 (anticodon CAC)  Symbol and/or name change 5135510 APPROVED