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Details for CYP7A1:c.1192C>G, p.Pro398Ala

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
59404935	58492376

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1192C>G

PROTEIN CHANGE

p.Pro398Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0029	0.0	0.002	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003412	0.001415	0.0006071	0.003472	0.0	0.006329	0.004334	0.003909	0.004083

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.519177	Polymorphism

DBSNP ID

2 combinations linked to CYP7A1:c.1192C>G, p.Pro398Ala

OLI1304; OLI1305

1 disease linked to CYP7A1:c.1192C>G, p.Pro398Ala

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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