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Details for INTU:c.1682T>C, p.Ile561Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
128626861	127705706

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1682T>C

PROTEIN CHANGE

p.Ile561Thr

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
7.966e-06	0.0	0.0	0.0	0.0	0.0	1.763e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.366584	Polymorphism

DBSNP ID

1 combination linked to INTU:c.1682T>C, p.Ile561Thr

1 disease linked to INTU:c.1682T>C, p.Ile561Thr

Isolated anencephaly

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