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Details for DCC:c.2260G>A, p.Val754Met

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
50866178	53339808

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2260G>A

PROTEIN CHANGE

p.Val754Met

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
0.0001473	0.0	0.0	0.0	0.001905	0.0	0.0	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.507118	Disease causing

DBSNP ID

1 combination linked to DCC:c.2260G>A, p.Val754Met

1 disease linked to DCC:c.2260G>A, p.Val754Met

Kallmann syndrome

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