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Details for MYSM1:p.Pro760Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
59126891	58661219

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro760Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.002	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005389	0.0	2.906e-05	0.0	0.006136	0.0	8.875e-06	0.0003312	0.0006545

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.06491	Polymorphism

DBSNP ID

2 combinations linked to MYSM1:p.Pro760Leu

OLI1713; OLI1714

1 disease linked to MYSM1:p.Pro760Leu

Common variable immunodeficiency

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