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Details for CDK4:c.385G>A, p.Asp129Asn

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
58144843	57751060

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.385G>A

PROTEIN CHANGE

p.Asp129Asn

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
7.953e-06	0.0	0.0	0.0	0.0	0.0	1.758e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.140804	Polymorphism

DBSNP ID

1 combination linked to CDK4:c.385G>A, p.Asp129Asn

1 disease linked to CDK4:c.385G>A, p.Asp129Asn

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