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Details for SETD2:c.3131G>A, p.Ser1044Asn

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
47162995	47121505

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3131G>A

PROTEIN CHANGE

p.Ser1044Asn

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
1.992e-05	0.0	0.0	0.0	0.0	0.0	3.529e-05	0.0001637	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.346314	Polymorphism

DBSNP ID

1 combination linked to SETD2:c.3131G>A, p.Ser1044Asn

1 disease linked to SETD2:c.3131G>A, p.Ser1044Asn

Isolated anencephaly

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