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Details for SMCHD1:c.35C>A, p.Ala12Asp

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
2656109	2656110

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.35C>A

PROTEIN CHANGE

p.Ala12Asp

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
8.969e-06	0.0	0.0	0.0	0.0	0.0	1.723e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.572753	Polymorphism

DBSNP ID

1 combination linked to SMCHD1:c.35C>A, p.Ala12Asp

1 disease linked to SMCHD1:c.35C>A, p.Ala12Asp

Hypogonadotropic hypogonadism with partial puberty phenotype

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