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Details for SMCHD1:c.1804A>G, p.Ile602Val

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
2703846	2703848

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1804A>G

PROTEIN CHANGE

p.Ile602Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.378626	Disease causing

DBSNP ID

1 combination linked to SMCHD1:c.1804A>G, p.Ile602Val

1 disease linked to SMCHD1:c.1804A>G, p.Ile602Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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