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Details for SMCHD1:c.1049A>T, p.Tyr350Phe

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
2697038	2697040

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1049A>T

PROTEIN CHANGE

p.Tyr350Phe

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
8.429e-06	0.0	0.0	0.0	0.0	0.0	1.912e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.07603	Disease causing

DBSNP ID

1 combination linked to SMCHD1:c.1049A>T, p.Tyr350Phe

1 disease linked to SMCHD1:c.1049A>T, p.Tyr350Phe

Hypogonadotropic hypogonadism with absent puberty phenotype

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