Variant Results

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Results for "MGEA5"

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
MGEA5	SP0094713	chr10: 103553783-103553783	C	T	intronic		De novo					-	1.653E-5	Fu2022 E
MGEA5	2-1308-003	chr10: 103557455-103557455	A	G	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
MGEA5	08C72657	chr10: 103560184-103560184	A	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
MGEA5	SP0025581	chr10: 103552661-103552663	GAA	G	exonic		De novo	frameshift deletion	NM_001142434 NM_012215	c.1949_1950del c.2108_2109del	p.F650fs p.F703fs	-	-	Fu2022 E Trost2022 G Zhou2022 GE
MGEA5	SP0144365	chr10: 103555688-103555688	T	G	intronic		De novo					-	-	Trost2022 G
MGEA5	11366.p1	chr10: 103557857-103557857	T	A	exonic		De novo	nonsynonymous SNV	NM_001142434 NM_012215	c.A1705T c.A1864T	p.M569L p.M622L	11.43	-	Ji2016 E Krumm2015 E Zhou2022 GE
MGEA5	SP0142129	chr10: 103578430-103578430	T	C	upstream		De novo					-	-	Trost2022 G
MGEA5	SP0216731	chr10: 103555663-103555663	T	C	intronic		De novo					-	-	Trost2022 G
MGEA5	Wang2023:74	chr10: 103552687-103552687	A	C	exonic		De novo	nonsynonymous SNV	NM_001142434 NM_012215	c.T1925G c.T2084G	p.I642S p.I695S	14.53	-	Wang2023 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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