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 KMT2D:c.8774C>T, p.Ala2925Val

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
49432365	49038582

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.8774C>T

PROTEIN CHANGE

p.Ala2925Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0038	0.0014	0.001	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001655	0.002035	0.0004348	0.0	0.00295	0.002368	0.00212	0.002157	0.0003268

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.648814	Polymorphism

DBSNP ID

1 combination linked to KMT2D:c.8774C>T, p.Ala2925Val

1 disease linked to KMT2D:c.8774C>T, p.Ala2925Val

Congenital hypothyroidism

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