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Details for DCC:c.3680G>A, p.Arg1227His

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
50994324	53467954

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3680G>A

PROTEIN CHANGE

p.Arg1227His

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
1.195e-05	0.0	0.0	0.0	5.442e-05	0.0	8.802e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.399495	Polymorphism

DBSNP ID

1 combination linked to DCC:c.3680G>A, p.Arg1227His

1 disease linked to DCC:c.3680G>A, p.Arg1227His

Kallmann syndrome

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