Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, VALINE
Synonyms

tRNA-VAL, MITOCHONDRIAL

ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1

LEIGH SYNDROME

MTTV

ID

http://purl.bioontology.org/ontology/OMIM/590105

altLabel

tRNA-VAL, MITOCHONDRIAL

ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1

LEIGH SYNDROME

MTTV

cui

C5435765

C0023264

C1538016

C4016634

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590105.0002

http://purl.bioontology.org/ontology/OMIM/590105.0003

http://purl.bioontology.org/ontology/OMIM/590105.0001

MIMTYPEMEANING

Gene with known sequence

notation

590105

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, VALINE

tui

T047

T033

T028

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