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Details for RNMT:c.1291T>G, p.Ser431Ala

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
13752358	13752359

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1291T>G

PROTEIN CHANGE

p.Ser431Ala

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
9.949e-05	6.152e-05	5.784e-05	0.0	0.0	0.0	0.0001936	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.268513	Polymorphism

DBSNP ID

1 combination linked to RNMT:c.1291T>G, p.Ser431Ala

1 disease linked to RNMT:c.1291T>G, p.Ser431Ala

Isolated anencephaly

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