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Details for MAMLD1:c.*126C>T,

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149680355	150512085

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.*126C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0076	0.0	0.0065	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003292	0.0	0.0006037	0.01437	0.0	0.004766	0.00509	0.001749	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.400445	Polymorphism

DBSNP ID

1 combination linked to MAMLD1:c.*126C>T,

1 disease linked to MAMLD1:c.*126C>T,

Disorder of sex development

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