Variant Results

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Results for "AKR1D1"

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
AKR1D1	2-1766-003	chr7: 137770359-137770359	T	C	intronic		De novo					-	-	Trost2022 G
AKR1D1	SSC05893	chr7: 137776536-137776536	C	T	exonic		De novo	nonsynonymous SNV	NM_001190906 NM_001190907 NM_005989	c.C284T c.C284T c.C284T	p.P95L p.P95L p.P95L	17.86	-	Fu2022 E Lim2017 E Trost2022 G
AKR1D1	iHART2382	chr7: 137798443-137798444	AC	A	exonic		Paternal	frameshift deletion	NM_001190906 NM_005989	c.741delC c.864delC	p.D247fs p.D288fs	-	6.647E-5	Ruzzo2019 G
AKR1D1	mAGRE2382	chr7: 137798443-137798444	AC	A	exonic		Paternal	frameshift deletion	NM_001190906 NM_005989	c.741delC c.864delC	p.D247fs p.D288fs	-	6.647E-5	Cirnigliaro2023 G
AKR1D1	3-0007-000	chr7: 137802581-137802581	A	T	UTR3		De novo					-	-	Trost2022 G
AKR1D1	1-0760-003	chr7: 137781015-137781015	G	A	intronic		De novo					-	-	Trost2022 G
AKR1D1	12901.p1	chr7: 137776536-137776536	C	T	exonic		De novo	nonsynonymous SNV	NM_001190906 NM_001190907 NM_005989	c.C284T c.C284T c.C284T	p.P95L p.P95L p.P95L	17.86	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
AKR1D1	3-0153-000	chr7: 137788832-137788832	A	G	intronic		De novo					-	-	Trost2022 G
AKR1D1	1-0441-003	chr7: 137794837-137794837	T	C	intronic		De novo					-	-	Yuen2016 G Yuen2017 G

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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