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Details for DCHS1:c.5866C>T, p.His1956Tyr

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
6648404	6627173

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5866C>T

PROTEIN CHANGE

p.His1956Tyr

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
7.997e-06	0.0	0.0	0.0	0.0	0.0	1.775e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.59957	Polymorphism

DBSNP ID

1 combination linked to DCHS1:c.5866C>T, p.His1956Tyr

1 disease linked to DCHS1:c.5866C>T, p.His1956Tyr

Isolated anencephaly

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