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Details for MAML1:c.1374C>T, p.Asp458=

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179193385	179766384

VARIANT EFFECT

silent

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1374C>T

PROTEIN CHANGE

p.Asp458=

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0008	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003213	0.001049	0.0007666	0.0004137	0.0002187	0.001025	0.006198	0.002338	0.0004671

ESP
AA	EA
0.001816	0.008256

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.046031	Polymorphism

DBSNP ID

1 combination linked to MAML1:c.1374C>T, p.Asp458=

1 disease linked to MAML1:c.1374C>T, p.Asp458=

Disorder of sex development

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