Variant Results

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Results for "GIT1"

Variant Events: 4

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
GIT1	13911.p1	chr17: 27903116-27903116	C	G	exonic		Mosaic, De novo	nonsynonymous SNV	NM_014030 NM_001085454	c.G1645C c.G1672C	p.V549L p.V558L	10.81	-	Dou2017 E Ji2016 E Krumm2015 E Krupp2017 E
GIT1	SP0058776	chr17: 27902925-27902925	C	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
GIT1	SP0043955	chr17: 27910590-27910590	C	T	exonic		De novo	nonsynonymous SNV	NM_001085454 NM_014030	c.G97A c.G97A	p.E33K p.E33K	36.0	1.205E-5	Fu2022 E Trost2022 G Zhou2022 GE
GIT1	SSC10226	chr17: 27903116-27903116	C	G	exonic		Mosaic	nonsynonymous SNV	NM_014030 NM_001085454	c.G1645C c.G1672C	p.V549L p.V558L	10.81	-	Lim2017 E

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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