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Details for SMCHD1:c.3106G>A, p.Val1036Ile

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
2732320	2732322

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3106G>A

PROTEIN CHANGE

p.Val1036Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.213e-05	0.0	0.0002028	0.0	0.0	0.0	8.864e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.436861	Polymorphism

DBSNP ID

1 combination linked to SMCHD1:c.3106G>A, p.Val1036Ile

1 disease linked to SMCHD1:c.3106G>A, p.Val1036Ile

Hypogonadotropic hypogonadism with partial puberty phenotype

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