Variant Results

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Results for "MAP1A"

Variant Events: 6

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
MAP1A	12645.p1	chr15: 43815999-43815999	C	T	exonic		Mosaic	synonymous SNV	NM_002373	c.C2328T	p.P776P	-	0.1651	Dou2017 E
MAP1A	Ishay2021:21	chr15: 43820423-43820423	C	T	exonic		Inherited	nonsynonymous SNV	NM_002373	c.C6752T	p.A2251V	12.5	0.0173	Ishay2021 E
MAP1A	Ishay2021:20	chr15: 43819150-43819150	C	G	exonic		Inherited	nonsynonymous SNV	NM_002373	c.C5479G	p.P1827A	1.048	0.0157	Ishay2021 E
MAP1A	Ishay2021:19	chr15: 43820423-43820423	C	T	exonic		Inherited	nonsynonymous SNV	NM_002373	c.C6752T	p.A2251V	12.5	0.0173	Ishay2021 E
MAP1A	1-0330-003	chr15: 43810752-43810752	T	TG	intronic		De novo					-	-	Yuen2017 G
MAP1A	SP0146259	chr15: 43819315-43819315	G	A	exonic		De novo	nonsynonymous SNV	NM_002373	c.G5644A	p.E1882K	13.44	8.906E-6	Trost2022 G

Source Variant Information

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Paper Information

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Pubmed
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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