ID   GM26184
AC   CVCL_A2WE
DR   Coriell; GM26184
DR   Wikidata; Q105507053
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12340; TRPS1; Simple; c.-9dupT; ClinVar=VCV000260329; Zygosity=Heterozygous (Coriell=GM26184).
CC   Sequence variation: Mutation; HGNC; HGNC:12340; TRPS1; Simple; p.Ser1067Argfs*3 (c.3198_3199delAT); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26184).
CC   Derived from site: In situ; Nose, cartilage; UBERON=UBERON_0001823.
DI   NCIt; C75109; Trichorhinophalangeal syndrome type I
DI   ORDO; Orphanet_77258; Trichorhinophalangeal syndrome type 1 and 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
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