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 MCCC2:c.1015G>A, p.Val339Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
70936845	71641018

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1015G>A

PROTEIN CHANGE

p.Val339Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007837	0.0002461	0.001012	0.001886	0.0	0.0	0.0009676	0.00261	0.0004246

ESP
AA	EA
0.000227	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.47769	Disease causing

DBSNP ID

1 combination linked to MCCC2:c.1015G>A, p.Val339Met

1 disease linked to MCCC2:c.1015G>A, p.Val339Met

Osteopetrosis,Mental retardation,Short stature,Spastic paraparesis

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