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Details for MKS1:c.1423C>T, p.Arg475Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
56283893	58206532

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1423C>T

PROTEIN CHANGE

p.Arg475Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.612e-05	0.0	2.897e-05	0.0	0.0	0.0	0.0	0.0	9.807e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.634032	Disease causing

DBSNP ID

1 combination linked to MKS1:c.1423C>T, p.Arg475Cys

1 disease linked to MKS1:c.1423C>T, p.Arg475Cys

Bardet-Biedl syndrome

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