Variant Results

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Results for "SGCA"

Variant Events: 7

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
SGCA	SP0119199	chr17: 48244916-48244916	C	T	intronic		De novo					-	-	Fu2022 E
SGCA	SP0005811	chr17: 48244953-48244953	C	T	exonic		De novo	synonymous SNV	NM_000023 NM_001135697	c.C168T c.C168T	p.P56P p.P56P	-	-	Fu2022 E
SGCA	11490.p1	chr17: 48244910-48244910	G	T	intronic		De novo					-	-	Satterstrom2020 E
SGCA	JASD_Fam0191	chr17: 48247675-48247675	C	T	exonic		De novo	synonymous SNV	NM_000023	c.C919T	p.L307L	9.55	-	Takata2018 E
SGCA	iHART3141	chr17: 48245831-48245831	T	TG	exonic		Maternal	frameshift insertion	NM_000023 NM_001135697	c.483dupG c.483dupG	p.L161fs p.L161fs	-	-	Ruzzo2019 G
SGCA	2-1178-003	chr17: 48256035-48256035	A	G	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
SGCA	iHART3142	chr17: 48245831-48245831	T	TG	exonic		Maternal	frameshift insertion	NM_000023 NM_001135697	c.483dupG c.483dupG	p.L161fs p.L161fs	-	-	Ruzzo2019 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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