TGFBR3

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Name:	transforming growth factor beta receptor 3
Symbol:	TGFBR3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	BGCAN betaglycan betaglycan proteoglycan
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)

Related Diseases

• Familial cerebral saccular aneurysm

Related Gene Panels

• Premature Ovarian Failure/Insufficiency (32 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AFF2	100.00	0
  AMH	75.52	0
  AMHR2	100.00	0
  BMP15	100.00	0
  DACH2	99.75	0
  DAZL	100.00	0
  DIAPH2	100.00	0
  DMC1	100.00	0
  ESR1	99.95	0
  FIGLA	98.07	0
  FMR1	100.00	0
  FOXL2	85.42	0
  FOXO1	86.72	0
  FOXO3	99.72	0
  FSHR	100.00	0
  GDF9	100.00	0
  GPR3	100.00	0
  HFM1	100.00	0
  INHA	100.00	0
  LHCGR	99.37	0
  MCM8	97.95	0
  MSH5	99.82	-2
  NOBOX	100.00	0
  NR5A1	100.00	0
  PATL2	100.00	0
  PGRMC1	100.00	0
  POF1B	100.00	0
  SOHLH1	100.00	0
  SOHLH2	96.06	0
  STAG3	99.70	0
  TGFBR3	100.00	0
  XPNPEP2	100.00	0