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Details for MSH6:c.3299C>T, p.Thr1100Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
48030685	47803546

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3299C>T

PROTEIN CHANGE

p.Thr1100Met

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
3.977e-05	0.000123	2.892e-05	0.0	5.437e-05	0.0	2.638e-05	0.0001629	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.546565	None

DBSNP ID

1 combination linked to MSH6:c.3299C>T, p.Thr1100Met

1 disease linked to MSH6:c.3299C>T, p.Thr1100Met

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