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Details for LZTR1:c.905C>T, p.Ala302Val

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
21346030	20991741

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.905C>T

PROTEIN CHANGE

p.Ala302Val

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
2.243e-05	9.441e-05	0.0	0.0	0.0	6.253e-05	1.353e-05	0.0	4.116e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.175848	Polymorphism

DBSNP ID

1 combination linked to LZTR1:c.905C>T, p.Ala302Val

1 disease linked to LZTR1:c.905C>T, p.Ala302Val

46,XY disorder of sex development

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