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Details for INSR:c.660_661del, p.Thr221HisfsTer3

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7184640	7184629

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TCG

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.660_661del

PROTEIN CHANGE

p.Thr221HisfsTer3

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	3.781442	None

DBSNP ID

1 combination linked to INSR:c.660_661del, p.Thr221HisfsTer3

1 disease linked to INSR:c.660_661del, p.Thr221HisfsTer3

46,XY disorder of sex development

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