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Details for MAP3K7:c.1115G>A, p.Arg372His

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
91257072	90547353

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1115G>A

PROTEIN CHANGE

p.Arg372His

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
8.023e-06	0.0	0.0	0.0	0.0	0.0	8.855e-06	0.0	3.298e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.347354	Polymorphism

DBSNP ID

1 combination linked to MAP3K7:c.1115G>A, p.Arg372His

1 disease linked to MAP3K7:c.1115G>A, p.Arg372His

Isolated Klippel-Feil syndrome

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