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Details for DACH1:c.2050C>T, p.Arg684Cys

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
72049312	71475180

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2050C>T

PROTEIN CHANGE

p.Arg684Cys

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
0.0007103	0.0002584	0.000811	0.0	0.0	0.0003246	0.001071	0.001821	0.0001961

ESP
AA	EA
0.0002697	0.001217

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.875979	None

DBSNP ID

1 combination linked to DACH1:c.2050C>T, p.Arg684Cys

1 disease linked to DACH1:c.2050C>T, p.Arg684Cys

Renal dysplasia

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