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Details for CACNA2D4:c.2095C>T, p.Leu699Phe

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
1965235	1856069

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2095C>T

PROTEIN CHANGE

p.Leu699Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0008	0.0029	0.0	0.001	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001657	0.0003229	0.0005792	0.0	0.0	0.0	0.002194	0.002643	0.004052

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.859289	Polymorphism

DBSNP ID

1 combination linked to CACNA2D4:c.2095C>T, p.Leu699Phe

1 disease linked to CACNA2D4:c.2095C>T, p.Leu699Phe

Rare pervasive developmental disorder

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