ID   HPS1776
AC   CVCL_UN90
DR   RCB; HPS1776
DR   Wikidata; Q94219838
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (RCB=HPS1776).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 8
//