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Details for AMH:c.553C>G, p.Gln185Glu

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
2250476	2250477

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.553C>G

PROTEIN CHANGE

p.Gln185Glu

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
0.0004121	0.0005023	0.0005661	0.003204	0.0	0.0	0.0002199	0.001153	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.376007	Disease causing

DBSNP ID

1 combination linked to AMH:c.553C>G, p.Gln185Glu

1 disease linked to AMH:c.553C>G, p.Gln185Glu

Syndrome with 46,XY disorder of sex development

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