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Details for CD36:c.1126-5_1127delTTTAGAT,

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
80302079	80672763

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TTTTTAGA

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1126-5_1127delTTTAGAT

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
1.617e-05	0.0	0.0	0.0	0.0002208	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.657649	Disease causing

DBSNP ID

1 combination linked to CD36:c.1126-5_1127delTTTAGAT,

1 disease linked to CD36:c.1126-5_1127delTTTAGAT,

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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