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Details for ADAMTS16:c.1822_1823del, p.His608Ter

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
5232601	5232488

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CAT

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1822_1823del

PROTEIN CHANGE

p.His608Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.61184	None

DBSNP ID

1 combination linked to ADAMTS16:c.1822_1823del, p.His608Ter

1 disease linked to ADAMTS16:c.1822_1823del, p.His608Ter

46,XY disorder of sex development

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