Variant Results

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Results for "MFSD3"

Variant Events: 10

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
MFSD3	mAGRE4790	chr8: 145736038-145736038	T	A	exonic		Maternal	stopgain	NM_138431	c.T888A	p.C296X	29.6	9.989E-5	Cirnigliaro2023 G
MFSD3	mAGRE1625	chr8: 145735211-145735213	ACT	A	exonic		Maternal	frameshift deletion	NM_138431	c.496_497del	p.L166fs	-	6.489E-5	Cirnigliaro2023 G
MFSD3	mAGRE1624	chr8: 145735211-145735213	ACT	A	exonic		Maternal	frameshift deletion	NM_138431	c.496_497del	p.L166fs	-	6.489E-5	Cirnigliaro2023 G
MFSD3	CC1362_201	chr8: 145736509-145736509	G	A	exonic		De novo	nonsynonymous SNV	NM_138431	c.G1201A	p.V401I	1.234	-	Fu2022 E
MFSD3	AU028A	chr8: 145735789-145735789	C	T	exonic		De novo	synonymous SNV	NM_138431	c.C729T	p.H243H	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
MFSD3	SSC02815	chr8: 145735146-145735146	A	AAGCTGGGGGCCGCGCT	exonic		De novo	frameshift insertion	NM_138431	c.430_431insAGCTGGGGGCCGCGCT	p.K144fs	-	-	Fu2022 E
MFSD3	mAGRE4791	chr8: 145736038-145736038	T	A	exonic		Maternal	stopgain	NM_138431	c.T888A	p.C296X	29.6	9.989E-5	Cirnigliaro2023 G
MFSD3	iHART1625	chr8: 145735211-145735213	ACT	A	exonic		Maternal	frameshift deletion	NM_138431	c.496_497del	p.L166fs	-	6.489E-5	Ruzzo2019 G
MFSD3	iHART1624	chr8: 145735211-145735213	ACT	A	exonic		Maternal	frameshift deletion	NM_138431	c.496_497del	p.L166fs	-	6.489E-5	Ruzzo2019 G
MFSD3	11776.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_138431 NM_138431	c.430_431insAGCTGGGGGCCGCGCT c.431_432insAGCTGGGGGCCGCGCT	p.K144fs p.K144fs	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Wilfert2021 G Zhou2022 GE

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Paper Information

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