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Details for TBX6:c.499C>T, p.Arg167Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
30100386	30089065

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.499C>T

PROTEIN CHANGE

p.Arg167Cys

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
1.198e-05	0.0	5.785e-05	0.0	0.0	0.0	0.0	0.0	3.269e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.788429	Polymorphism

DBSNP ID

1 combination linked to TBX6:c.499C>T, p.Arg167Cys

1 disease linked to TBX6:c.499C>T, p.Arg167Cys

Isolated Klippel-Feil syndrome

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