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Details for LRP1B:c.12983A>G, p.Tyr4328Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
141032152	140274583

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.12983A>G

PROTEIN CHANGE

p.Tyr4328Cys

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	3.921257	Disease causing

DBSNP ID

1 combination linked to LRP1B:c.12983A>G, p.Tyr4328Cys

1 disease linked to LRP1B:c.12983A>G, p.Tyr4328Cys

Non-Syndromic genetic keratoconus

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