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Details for MET:c.1090G>A, p.Ala364Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
116340228	116700174

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1090G>A

PROTEIN CHANGE

p.Ala364Thr

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
4.326e-06	0.0	0.0	0.0	0.0	0.0	9.309e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.516941	Polymorphism

DBSNP ID

1 combination linked to MET:c.1090G>A, p.Ala364Thr

1 disease linked to MET:c.1090G>A, p.Ala364Thr

Kallmann syndrome

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