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Details for SHOX:c.547G>A, p.Val183Ile

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
601736	641001

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.547G>A

PROTEIN CHANGE

p.Val183Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0003	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004698	0.0003691	8.673e-05	0.0	5.437e-05	0.0	8.815e-06	0.0003263	0.00343

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.289448	None

DBSNP ID

1 combination linked to SHOX:c.547G>A, p.Val183Ile

1 disease linked to SHOX:c.547G>A, p.Val183Ile

Mayer-Rokitansky-Küster-Hauser syndrome

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