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Details for HGF:c.1361C>T, p.Thr454Met

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
81346592	81717276

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1361C>T

PROTEIN CHANGE

p.Thr454Met

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.828908	Polymorphism

DBSNP ID

1 combination linked to HGF:c.1361C>T, p.Thr454Met

1 disease linked to HGF:c.1361C>T, p.Thr454Met

Kallmann syndrome

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