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Details for COL17A1:c.3277+3G>C,

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
105796800	104037042

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3277+3G>C

PROTEIN CHANGE

None

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
5.908e-05	0.0	0.0	0.0	0.0	0.0	0.0001213	0.0	3.555e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.255116	Disease causing

DBSNP ID

1 combination linked to COL17A1:c.3277+3G>C,

1 disease linked to COL17A1:c.3277+3G>C,

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