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Details for CCDC28B:c.430G>T, p.Asp144Tyr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
32669885	32204284

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.430G>T

PROTEIN CHANGE

p.Asp144Tyr

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
1.594e-05	0.0	2.896e-05	0.0	0.0	0.0	1.764e-05	0.0001635	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Unknown	2.254223	Polymorphism

DBSNP ID

5 combinations linked to CCDC28B:c.430G>T, p.Asp144Tyr

OLI037; OLI038; OLI039; OLI041; OLI059

3 diseases linked to CCDC28B:c.430G>T, p.Asp144Tyr

Hirschsprung disease; Bardet-Biedl syndrome; Retinitis pigmentosa

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