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Details for SMC1B:c.662T>C, p.Ile221Thr

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
45798405	45402525

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.662T>C

PROTEIN CHANGE

p.Ile221Thr

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
8.019e-06	6.458e-05	2.9e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.506123	Polymorphism

DBSNP ID

1 combination linked to SMC1B:c.662T>C, p.Ile221Thr

1 disease linked to SMC1B:c.662T>C, p.Ile221Thr

Primary ovarian failure

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