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Details for CACNA1F:c.4360C>G, p.Leu1454Val

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
49067486	49211026

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.4360C>G

PROTEIN CHANGE

p.Leu1454Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.409354	Polymorphism

DBSNP ID

1 combination linked to CACNA1F:c.4360C>G, p.Leu1454Val

1 disease linked to CACNA1F:c.4360C>G, p.Leu1454Val

Syndrome with 46,XY disorder of sex development

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