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Details for ID1:c.458_460delTGT, p.Leu153del

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
30193885	31606082

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CTTG

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.458_460delTGT

PROTEIN CHANGE

p.Leu153del

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
1.621e-05	0.0	2.895e-05	0.0	0.0	0.0	2.654e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001212

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.462048	Polymorphism

DBSNP ID

1 combination linked to ID1:c.458_460delTGT, p.Leu153del

1 disease linked to ID1:c.458_460delTGT, p.Leu153del

Primary ovarian failure

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