Variant Results

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Results for "IMPDH1"

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
IMPDH1	2-1205-003	chr7: 128087795-128087795	A	AT	intergenic		De novo					-	-	Yuen2016 G
IMPDH1	80001101637	chr7: 128035228-128035228	G	A	exonic		De novo	synonymous SNV	NM_001142575 NM_001142573 NM_001142574 NM_001304521 NM_183243 NM_001102605 NM_001142576 NM_000883	c.C1032T c.C1107T c.C1092T c.C1155T c.C1254T c.C1332T c.C1263T c.C1362T	p.T344T p.T369T p.T364T p.T385T p.T418T p.T444T p.T421T p.T454T	-	7.445E-5	Satterstrom2020 E
IMPDH1	2-0197-004	chr7: 128040780-128040780	T	C	intronic		De novo					-	-	Yuen2017 G
IMPDH1	11194.p1	chr7: 128040992-128040992	C	T	intronic		Mosaic					-	-	Dou2017 E
IMPDH1	1-0148-005	chr7: 128038307-128038307	G	A	intronic		De novo					-	-	Yuen2017 G
IMPDH1	2-1406-003	chr7: 128037933-128037933	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 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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