ID   GM18367
AC   CVCL_6G81
DR   CLO; CLO_0031109
DR   Coriell; GM18367
DR   Wikidata; Q54849516
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; 882; ATR; Simple; p.Gly674Gly (c.2022A>G) (2101A>G); ClinVar=VCV000008307; Zygosity=Homozygous; Note=Silent mutation that causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10 (Coriell=GM18367).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Caution: Could be identical to DK0064 (Cellosaurus=CVCL_R778).
CC   Discontinued: Coriell; GM18367; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125488; Seckel syndrome
DI   ORDO; Orphanet_808; Seckel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_R778 ! DK0064
OI   CVCL_6G80 ! GM18366
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 14
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