先天性第XI因子欠乏症

小児・神経疾患

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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
Deletion	NC_000004.12:g.(?_185684754)_(186709827_?)del	F11	Pathogenic	4	186605908	187630981	na	na	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)	F11	Pathogenic	4	187205384	187205385	G	GGATATTA	criteria provided, multiple submitters, no conflicts	-
Deletion	Single allele	F11	Likely pathogenic	4	187186066	187210839	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1120T>C (p.Cys374Arg)	F11	Likely pathogenic	4	187201719	187201719	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1118T>C (p.Leu373Ser)	F11	Likely pathogenic	4	187201717	187201717	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.802C>T (p.Arg268Cys)	F11	Pathogenic	4	187201212	187201212	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.728C>T (p.Ser243Phe)	F11	Likely pathogenic	4	187197517	187197517	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.359T>C (p.Met120Thr)	F11	Likely pathogenic	4	187195303	187195303	T	C	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.343del (p.Tyr115fs)	F11	Likely pathogenic	4	187195285	187195285	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1480+2T>C	F11	Likely pathogenic	4	187206969	187206969	T	C	criteria provided, single submitter	-