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Details for COL4A1:c.739C>T, p.Gln247Ter

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
110859791	110207444

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.739C>T

PROTEIN CHANGE

p.Gln247Ter

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	7.156243	Disease causing

DBSNP ID

1 combination linked to COL4A1:c.739C>T, p.Gln247Ter

1 disease linked to COL4A1:c.739C>T, p.Gln247Ter

Autosomal dominant polycystic kidney disease

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