ID   HPS3238
AC   CVCL_D0ZL
DR   RCB; HPS3238
DR   Wikidata; Q123032567
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Unspecified (RCB=HPS3238).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0ZJ ! HPS3236
OI   CVCL_D0ZK ! HPS3237
OI   CVCL_D0ZM ! HPS3239
OI   CVCL_D0ZN ! HPS3240
OI   CVCL_D0ZP ! HPS3241
SX   Male
AG   20-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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