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Details for IGSF10:c.1188A>C, p.Glu396Asp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
151166581	151448793

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1188A>C

PROTEIN CHANGE

p.Glu396Asp

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
4.378e-05	0.0	0.0	0.0	0.0	0.0	9.685e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.676294	Polymorphism

DBSNP ID

1 combination linked to IGSF10:c.1188A>C, p.Glu396Asp

1 disease linked to IGSF10:c.1188A>C, p.Glu396Asp

Kallmann syndrome

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