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Details for TIMP3:c.311T>C, p.Leu104Pro

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
33253342	32857355

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.311T>C

PROTEIN CHANGE

p.Leu104Pro

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
Deleterious	Possibly Damaging	4.100589	Disease causing

DBSNP ID

1 combination linked to TIMP3:c.311T>C, p.Leu104Pro

1 disease linked to TIMP3:c.311T>C, p.Leu104Pro

Cerebral arteriovenous malformation

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