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Details for CXCL6:c.274C>A, p.Leu92Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
74702951	73837234

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.274C>A

PROTEIN CHANGE

p.Leu92Met

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
1.195e-05	0.0	0.0	0.0	0.0	0.0	2.642e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.567859	Polymorphism

DBSNP ID

1 combination linked to CXCL6:c.274C>A, p.Leu92Met

1 disease linked to CXCL6:c.274C>A, p.Leu92Met

Isolated anencephaly

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