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Details for DMP1:c.313G>A, p.Asp105Asn

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
88583243	87662091

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.313G>A

PROTEIN CHANGE

p.Asp105Asn

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
3.182e-05	0.0002462	0.0	0.0	0.0	0.0	3.517e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.23248	Polymorphism

DBSNP ID

1 combination linked to DMP1:c.313G>A, p.Asp105Asn

1 disease linked to DMP1:c.313G>A, p.Asp105Asn

Sudden infant death syndrome

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