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Details for LDLR:c.611G>C, p.Cys204Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
11216193	11105517

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.611G>C

PROTEIN CHANGE

p.Cys204Ser

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	3.374024	Disease causing

DBSNP ID

1 combination linked to LDLR:c.611G>C, p.Cys204Ser

1 disease linked to LDLR:c.611G>C, p.Cys204Ser

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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