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Details for MAML1:c.1157G>T, p.Gly386Val

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179193168	179766167

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1157G>T

PROTEIN CHANGE

p.Gly386Val

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
9.624e-05	0.0	3.301e-05	0.0	0.0	0.0	0.0001912	0.000184	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.225812	Polymorphism

DBSNP ID

1 combination linked to MAML1:c.1157G>T, p.Gly386Val

1 disease linked to MAML1:c.1157G>T, p.Gly386Val

Disorder of sex development

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