Variant Results

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Results for "THYN1"

Variant Events: 5

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
THYN1	10C101297	chr11: 134119204-134119204	A	C	intronic		De novo					-	8.272E-6	Kosmicki2017 E
THYN1	AU2462302	chr11: 134122757-134122757	C	T	exonic		De novo	nonsynonymous SNV	NM_014174 NM_001037304 NM_001037305 NM_199297 NM_199298	c.G20A c.G20A c.G20A c.G20A c.G20A	p.R7K p.R7K p.R7K p.R7K p.R7K	17.69	-	Trost2022 G Trost2022 G Zhou2022 GE
THYN1	133341	chr11: 134119744-134119744	G	A	exonic			nonsynonymous SNV	NM_014174 NM_001037304 NM_001037305 NM_199297 NM_199298	c.C362T c.C362T c.C362T c.C362T c.C362T	p.P121L p.P121L p.P121L p.P121L p.P121L	34.0	-	Woodbury-Smith2022 E
THYN1	mAGRE5369	chr11: 134121095-134121099	TCAAA	T	exonic		Maternal	frameshift deletion	NM_014174 NM_001037304 NM_001037305 NM_199297 NM_199298	c.147_150del c.147_150del c.147_150del c.147_150del c.147_150del	p.C49fs p.C49fs p.C49fs p.C49fs p.C49fs	-	2.471E-5	Cirnigliaro2023 G
THYN1	mAGRE4497	chr11: 134118826-134118827	TC	T	exonic		Paternal	frameshift deletion	NM_014174 NM_001037305 NM_199298	c.507delG c.507delG c.507delG	p.M169fs p.M169fs p.M169fs	-	-	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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