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Details for PRPH2:c.554T>C, p.Leu185Pro

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
42689519	42721781

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.554T>C

PROTEIN CHANGE

p.Leu185Pro

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
7.955e-06	0.0	0.0	0.0	0.0	0.0	1.759e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.148268	Disease causing

DBSNP ID

2 combinations linked to PRPH2:c.554T>C, p.Leu185Pro

1 disease linked to PRPH2:c.554T>C, p.Leu185Pro

Retinitis pigmentosa

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