Variant Results

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Results for "MINK1"

Variant Events: 9

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
MINK1	649-04-102027	chr17: 4797485-4797485	G	A	exonic		De novo	nonsynonymous SNV	NM_015716 NM_001024937 NM_153827 NM_170663	c.G2576A c.G2627A c.G2687A c.G2600A	p.R859Q p.R876Q p.R896Q p.R867Q	16.67	4.151E-5	Satterstrom2020 E
MINK1	72-0745	chr17: 4799506-4799506	C	T	exonic		Inherited	nonsynonymous SNV	NM_015716 NM_001024937 NM_153827 NM_170663	c.C3373T c.C3424T c.C3484T c.C3397T	p.H1125Y p.H1142Y p.H1162Y p.H1133Y	18.47	2.633E-5	Patowary2019 E
MINK1	111304	chr17: 4796055-4796055	G	A	exonic			nonsynonymous SNV	NM_015716 NM_170663 NM_001024937 NM_153827	c.G2192A c.G2192A c.G2243A c.G2303A	p.R731H p.R731H p.R748H p.R768H	22.5	2.0E-4	Woodbury-Smith2022 E
MINK1	AU058105	chr17: 4742429-4742429	G	A	intronic		De novo					-	-	Yuen2017 G
MINK1	14522.p1	chr17: 4789777-4789777	T	C	exonic		De novo	nonsynonymous SNV	NM_001024937 NM_015716 NM_153827 NM_170663	c.T805C c.T805C c.T805C c.T805C	p.C269R p.C269R p.C269R p.C269R	20.9	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
MINK1	13958.p1	chr17: 4799898-4799898	G	A	intronic		De novo					-	3.382E-5	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
MINK1	1-0075-003	chr17: 4781385-4781385	G	A	intronic		De novo					-	-	Yuen2017 G
MINK1	Lim2017:36774	chr17: 4789777-4789777	T	C	exonic		De novo	nonsynonymous SNV	NM_001024937 NM_015716 NM_153827 NM_170663	c.T805C c.T805C c.T805C c.T805C	p.C269R p.C269R p.C269R p.C269R	20.9	-	Lim2017 E
MINK1	09C81507	chr17: 4799902-4799902	T	C	intronic		De novo					-	7.717E-5	Kosmicki2017 E Satterstrom2020 E

Source Variant Information

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Paper Information

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Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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