悪性高熱症 - MGenReviews

悪性高熱症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000540.3(RYR1):c.13672C>G (p.Arg4558Gly)	RYR1	Pathogenic	19	39061259	39061259	C	G	criteria provided, single submitter	-
Duplication	NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)	RYR1	Pathogenic	19	39058505	39058506	A	AAGCTGGAGGCGAATTCTGGGGAG	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.13498G>T (p.Glu4500Ter)	RYR1	Pathogenic	19	39057611	39057611	G	T	criteria provided, single submitter	-
Deletion	NM_000540.3(RYR1):c.13058del (p.Gly4353fs)	RYR1	Pathogenic	19	39056030	39056030	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.11697G>C (p.Gln3899His)	RYR1	Likely pathogenic	19	39033994	39033994	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.10799C>G (p.Ser3600Ter)	RYR1	Pathogenic	19	39018399	39018399	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	RYR1	Pathogenic/Likely pathogenic	19	38998423	38998423	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)	RYR1	Pathogenic/Likely pathogenic	19	38994885	38994886	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000540.3(RYR1):c.7784_7791del (p.Leu2595fs)	RYR1	Pathogenic	19	38993316	38993323	CTCACCAAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu)	RYR1	Likely pathogenic	19	38993289	38993289	T	A	criteria provided, single submitter	-