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Details for LDLRAP1:c.604_605delTCinsCA, p.Ser202His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
25889632	25563141

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TC

ALTERNATE ALLELE

CA

TRANSCRIPT

N.A.

CDNA CHANGE

c.604_605delTCinsCA

PROTEIN CHANGE

p.Ser202His

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
Tolerated	Benign	0.81164	None

DBSNP ID

1 combination linked to LDLRAP1:c.604_605delTCinsCA, p.Ser202His

1 disease linked to LDLRAP1:c.604_605delTCinsCA, p.Ser202His

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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