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Details for SMC1B:c.3530A>T, p.Gln1177Leu

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
45741416	45345535

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3530A>T

PROTEIN CHANGE

p.Gln1177Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.011	0.0408	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002639	0.03838	0.001594	0.0	0.0	0.0	3.535e-05	0.0006607	3.27e-05

ESP
AA	EA
0.04096	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.203528	Polymorphism

DBSNP ID

1 combination linked to SMC1B:c.3530A>T, p.Gln1177Leu

1 disease linked to SMC1B:c.3530A>T, p.Gln1177Leu

Primary ovarian failure

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