Variant Results

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Results for "ELMO3"

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
ELMO3	3316_17au	chr16: 67234798-67234798	A	G	exonic		De novo	nonsynonymous SNV	NM_024712	c.A830G	p.N277S	23.9	-	Fu2022 E
ELMO3	111311	chr16: 67234419-67234419	C	T	exonic			nonsynonymous SNV	NM_024712	c.C638T	p.S213F	22.0	7.504E-5	Woodbury-Smith2022 E
ELMO3	ASC_11147-1	chr16: 67234822-67234822	T	TGGCCCTGCTGAC	exonic		De novo	nonframeshift insertion	NM_024712	c.854_855insGGCCCTGCTGAC	p.M285delinsMALLT	-	-	Fu2022 E
ELMO3	mAGRE1454	chr16: 67236599-67236599	C	T	exonic		Paternal	stopgain	NM_024712	c.C1627T	p.R543X	38.0	2.0E-4	Cirnigliaro2023 G
ELMO3	iHART1454	chr16: 67236599-67236599	C	T	exonic		Paternal	stopgain	NM_024712	c.C1627T	p.R543X	38.0	2.0E-4	Ruzzo2019 G
ELMO3	SP0050118	chr16: 67237126-67237126	C	T	exonic		De novo	nonsynonymous SNV	NM_024712	c.C1939T	p.L647F	12.04	1.142E-5	Fu2022 E Trost2022 G Zhou2022 GE

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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