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Details for WNT10A:c.511C>T, p.Arg171Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
219754840	218890118

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.511C>T

PROTEIN CHANGE

p.Arg171Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0	0.0	0.0149	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00191	0.0003078	0.0001446	0.0	0.01582	0.0004163	0.001047	0.001142	0.001437

ESP
AA	EA
0.0004539	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.663114	Disease causing

DBSNP ID

4 combinations linked to WNT10A:c.511C>T, p.Arg171Cys

OLI159; OLI160; OLI161; OLI164

1 disease linked to WNT10A:c.511C>T, p.Arg171Cys

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