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Details for LZTR1:c.1311G>A,

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
21348001	20993712

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1311G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.432772	Disease causing

DBSNP ID

1 combination linked to LZTR1:c.1311G>A,

1 disease linked to LZTR1:c.1311G>A,

NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

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