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Details for MET:c.2975C>T, p.Thr992Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
116411990	116771936

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2975C>T

PROTEIN CHANGE

p.Thr992Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0058	0.0	0.0119	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007891	0.001873	0.001537	0.007959	0.0	0.01954	0.01132	0.009453	0.001602

ESP
AA	EA
0.001073	0.01246

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.76189	Polymorphism

DBSNP ID

1 combination linked to MET:c.2975C>T, p.Thr992Ile

2 diseases linked to MET:c.2975C>T, p.Thr992Ile

Congenital diaphragmatic hernia; Marfan syndrome

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