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To access more data, such as phenotypic and clinical characteristics of patients, contact us at canvas@rrp.demokritos.gr

CanVaS - A Greek Cancer Patient Genetic Variation Resource

BRCA1 (BRCA1 DNA repair associated)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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Inheritance: Values based on OMIM's and HPO's values for inheritance.

AD	: Autosomal dominant
PI	: Autosomal dominant with paternal imprinting
MI	: Autosomal dominant with maternal imprinting
AR	: Autosomal recessive
DD	: Digenic dominant
DR	: Digenic recessive
IC	: Isolated Cases (Sporadic)
Mi	: Mitochondrial
Mu	: Multifactorial
SMo	: Somatic mosaicism
SMu	: Somatic mutation
OG	: Oligogenic (3 genes)
PG	: Polygenic (>3 genes)
XL	: X-linked
XLD	: X-linked dominant
XLR	: X-linked recessive
YL	: Y-linked

4 entries on 1 page. Showing entries 1 - 4.

Legend

ID	Abbreviation	Name	OMIM ID	Inheritance	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00139	MC2D	Mitochondrial complex II deficiency	252011	-	0	0	SDHD	-	-
00140	PGL1	Paragangliomas 1, with or without deafness	168000	-	0	0	SDHD	-	-
00137	PGLGSS	Paraganglioma and gastric stromal sarcoma	606864	-	0	0	SDHB, SDHC, SDHD	-	-
00087	Pheo	Pheochromocytoma, susceptibility to	171300	-	23	23	MAX, RET, SDHB, SDHD, TMEM127, VHL	-	-

Legend