ID   GM28741
AC   CVCL_D6Y7
DR   Coriell; GM28741
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (Coriell=GM28741).
CC   Sequence variation: Mutation; HGNC; HGNC:7468; MTR; Simple; p.Pro1173Leu (c.3518C>T); ClinVar=VCV000014278; Zygosity=Heterozygous (Coriell=GM28741).
CC   Sequence variation: Mutation; HGNC; HGNC:7468; MTR; Unexplicit; Ex29-30del; Zygosity=Heterozygous (Coriell=GM28741).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C99081; Arakawa syndrome II
DI   ORDO; Orphanet_2170; Methylcobalamin deficiency type cblG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//