Variant Results

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Results for "ARHGAP45"

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
ARHGAP45	2-0320-003	chr19: 1084616-1084616	C	T	intronic		De novo					-	-	Yuen2017 G
ARHGAP45	11604.p1	chr19: 1079991-1079991	T	C	exonic		De novo	nonsynonymous SNV	NM_001282334 NM_001282335 NM_001258328 NM_012292	c.T482C c.T1226C c.T1625C c.T1577C	p.M161T p.M409T p.M542T p.M526T	4.552	-	Iossifov2014 E Kosmicki2017 E Lim2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G
ARHGAP45	SP0017155	chr19: 1080913-1080913	C	T	exonic		De novo	synonymous SNV	NM_001282334 NM_001282335 NM_001258328 NM_012292	c.C945T c.C1689T c.C2088T c.C2040T	p.P315P p.P563P p.P696P p.P680P	-	-	Fu2022 E
ARHGAP45	7-0161-003	chr19: 1080454-1080454	T	C	intronic		De novo					6.896	-	Yuen2017 G
ARHGAP45	SP0009922	chr19: 1085982-1085982	G	T	exonic		De novo	stopgain	NM_001282334 NM_001282335 NM_001258328 NM_012292	c.G2293T c.G3037T c.G3436T c.G3388T	p.E765X p.E1013X p.E1146X p.E1130X	39.0	-	Feliciano2019 E Fu2022 E
ARHGAP45	11604_p1	chr19: 1079991-1079991	T	C	exonic		De novo	nonsynonymous SNV	NM_001282334 NM_001282335 NM_001258328 NM_012292	c.T482C c.T1226C c.T1625C c.T1577C	p.M161T p.M409T p.M542T p.M526T	4.552	-	Fu2022 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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