Variant Results

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Results for "ANKMY1"

Variant Events: 8

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
ANKMY1	1-0673-003	chr2: 241495303-241495303	T	C	intronic		De novo					-	-	Yuen2017 G
ANKMY1	2-0299-005	chr2: 241467272-241467272	T	A	intronic		De novo					-	-	Yuen2017 G
ANKMY1	286-05-103511	chr2: 241463656-241463656	C	T	exonic		De novo	nonsynonymous SNV	NM_001282780 NM_001308375 NM_017844 NM_016552 NM_001282771	c.G788A c.G1025A c.G788A c.G1211A c.G1478A	p.R263H p.R342H p.R263H p.R404H p.R493H	0.881	7.452E-5	Satterstrom2020 E
ANKMY1	PN400149	chr2: 241463346-241463346	G	A	exonic		De novo	synonymous SNV	NM_001282780 NM_001308375 NM_017844 NM_001282781 NM_016552 NM_001282771	c.C1098T c.C1335T c.C1098T c.C804T c.C1521T c.C1788T	p.S366S p.S445S p.S366S p.S268S p.S507S p.S596S	-	8.304E-6	Leblond2019 E
ANKMY1	1-0508-003	chr2: 241487642-241487642	A	C	intronic		De novo					-	-	Yuen2017 G
ANKMY1	AU3866301	chr2: 241492375-241492375	G	A	exonic		De novo	stopgain	NM_016552 NM_001282771 NM_001282780 NM_001282781 NM_001308375 NM_017844	c.C169T c.C436T c.C436T c.C436T c.C673T c.C436T	p.R57X p.R146X p.R146X p.R146X p.R225X p.R146X	11.06	1.649E-5	Yuen2017 G
ANKMY1	2-1735-003	chr2: 241500280-241500280	C	A	exonic		De novo	nonsynonymous SNV	NM_001033575 NM_001308375	c.C179A c.G88T	p.A60E p.A30S	11.33	-	Yuen2017 G
ANKMY1	iHART1717	chr2: 241451277-241451277	C	T	splicing		Paternal	splicing				9.369	-	Ruzzo2019 G

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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