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Details for WNT7A:c.83C>T, p.Ser28Leu

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
13916659	13875162

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.83C>T

PROTEIN CHANGE

p.Ser28Leu

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
8.022e-06	0.0	0.0	0.0	0.0001091	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.014691	Disease causing

DBSNP ID

1 combination linked to WNT7A:c.83C>T, p.Ser28Leu

1 disease linked to WNT7A:c.83C>T, p.Ser28Leu

Isolated Klippel-Feil syndrome

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