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Details for MKKS:c.110A>G, p.Tyr37Cys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10394053	10413405

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.110A>G

PROTEIN CHANGE

p.Tyr37Cys

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
6.772e-05	0.0	0.0	0.0	0.0	0.0	0.0001322	0.0	6.536e-05

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.7613	Disease causing

DBSNP ID

1 combination linked to MKKS:c.110A>G, p.Tyr37Cys

1 disease linked to MKKS:c.110A>G, p.Tyr37Cys

Bardet-Biedl syndrome

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