Variant Results

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Results for "GALC"

Variant Events: 8

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
GALC	226-09-111366	chr14: 88414190-88414190	G	A	exonic		De novo	synonymous SNV	NM_001201401 NM_000153 NM_001201402	c.C1302T c.C1371T c.C1293T	p.S434S p.S457S p.S431S	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
GALC	SP0028878	chr14: 88459847-88459847	A	C	UTR5		De novo					-	-	Fu2022 E
GALC	11107_p1	chr14: 88407884-88407884	C	T	exonic		De novo	synonymous SNV	NM_001201401 NM_000153 NM_001201402	c.G1620A c.G1689A c.G1611A	p.K540K p.K563K p.K537K	-	-	Fu2022 E
GALC	UK10K_SKUSE5080246	chr14: 88442767-88442767	G	A	exonic		De novo	synonymous SNV	NM_001201401 NM_000153 NM_001201402	c.C618T c.C687T c.C609T	p.L206L p.L229L p.L203L	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
GALC	mAGRE2017	chr14: 88429779-88429779	G	C	exonic		Paternal	stopgain	NM_001201401 NM_000153 NM_001201402	c.C1041G c.C1110G c.C1032G	p.Y347X p.Y370X p.Y344X	17.28	4.975E-5	Cirnigliaro2023 G
GALC	1-0464-003	chr14: 88442863-88442863	G	A	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
GALC	11107.p1	chr14: 88407884-88407884	C	T	exonic		De novo	synonymous SNV	NM_001201401 NM_000153 NM_001201402	c.G1620A c.G1689A c.G1611A	p.K540K p.K563K p.K537K	-	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
GALC	iHART2017	chr14: 88429779-88429779	G	C	exonic		Paternal	stopgain	NM_001201401 NM_000153 NM_001201402	c.C1041G c.C1110G c.C1032G	p.Y347X p.Y370X p.Y344X	17.28	4.975E-5	Ruzzo2019 G

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Paper Information

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