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Details for NOG:c.602C>T, p.Thr201Met

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
54672186	56594825

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.602C>T

PROTEIN CHANGE

p.Thr201Met

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
2.871e-05	0.0	0.0	0.0001013	0.0	0.0	1.821e-05	0.0	0.0001332

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.165198	Disease causing

DBSNP ID

1 combination linked to NOG:c.602C>T, p.Thr201Met

1 disease linked to NOG:c.602C>T, p.Thr201Met

Isolated anencephaly

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