This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for MCM9:c.911A>G, p.Asn304Ser

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
119234579	118913414

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.911A>G

PROTEIN CHANGE

p.Asn304Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0026	0.0008	0.0014	0.0	0.0099	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003568	0.001048	0.003006	0.003727	0.0	0.000972	0.005646	0.004607	0.001541

ESP
AA	EA
0.001816	0.00407

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.708614	Polymorphism

DBSNP ID

1 combination linked to MCM9:c.911A>G, p.Asn304Ser

1 disease linked to MCM9:c.911A>G, p.Asn304Ser

Normosmic congenital hypogonadotropic hypogonadism

Found any issues with the data on this page? Report this entry.