ID   GM21873
AC   CVCL_D339
DR   Coriell; GM21873
DR   Wikidata; Q54852193
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; p.Lys253fs*12 (c.752delA); Zygosity=Heterozygous (Coriell=GM21873).
CC   Sequence variation: Mutation; HGNC; HGNC:27230; ESCO2; Simple; c.1132-7A>G (IVS6-7A>G) (p.I377_378insLX); ClinVar=VCV000021234; Zygosity=Heterozygous (Coriell=GM21873).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C4681; Roberts-SC phocomelia syndrome
DI   ORDO; Orphanet_3103; Roberts syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20FW
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 15
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