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Details for PGRMC1:c.533C>T, p.Thr178Ile

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
118377162	119243199

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.533C>T

PROTEIN CHANGE

p.Thr178Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0003	0.0	0.0	0.0013	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003001	0.0	0.0	0.0	0.003896	0.0	0.0	0.0002213	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.535427	Polymorphism

DBSNP ID

2 combinations linked to PGRMC1:c.533C>T, p.Thr178Ile

OLI1729; OLI1730

1 disease linked to PGRMC1:c.533C>T, p.Thr178Ile

Primary ovarian failure

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