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Details for MAMLD1:c.2190G>A, p.Ser730=

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149671693	150503423

VARIANT EFFECT

silent

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2190G>A

PROTEIN CHANGE

p.Ser730=

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
5.468e-06	0.0	0.0	0.0	0.0	0.0	1.228e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.906282	None

DBSNP ID

1 combination linked to MAMLD1:c.2190G>A, p.Ser730=

1 disease linked to MAMLD1:c.2190G>A, p.Ser730=

Disorder of sex development

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