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Details for ANKRD11:c.6067G>T, p.Ala2023Ser

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89346883	89280475

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6067G>T

PROTEIN CHANGE

p.Ala2023Ser

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
1.961e-05	0.0	0.0	0.0	0.0	0.0	1.133e-05	0.0002045	7.334e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.067181	Polymorphism

DBSNP ID

1 combination linked to ANKRD11:c.6067G>T, p.Ala2023Ser

1 disease linked to ANKRD11:c.6067G>T, p.Ala2023Ser

Isolated Klippel-Feil syndrome

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