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Details for MKKS:c.724G>T, p.Ala242Ser

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10393439	10412791

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.724G>T

PROTEIN CHANGE

p.Ala242Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0029	0.0	0.007	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00521	0.001358	0.00185	0.001093	5.437e-05	0.004157	0.00969	0.003436	0.0

ESP
AA	EA
0.001816	0.005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.840462	Polymorphism

DBSNP ID

10 combinations linked to MKKS:c.724G>T, p.Ala242Ser

OLI085; OLI170; OLI171; OLI177; OLI225; OLI614; OLI1436; OLI1437; OLI084; OLI1435

2 diseases linked to MKKS:c.724G>T, p.Ala242Ser

Alström syndrome; Bardet-Biedl syndrome

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