"SIB Swiss Institute of Bioinformatics"[submitter] AND "LOC130064510"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488345	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1, LOC130064510 (R110C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 487577	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	LOC130064510, TGFB1 (R45C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic