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Details for KMT2D:c.10256A>G, p.Asp3419Gly

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
49428694	49034911

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.10256A>G

PROTEIN CHANGE

p.Asp3419Gly

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
0.001589	0.0003874	0.0008693	0.0001987	5.563e-05	0.001532	0.002398	0.002148	0.001307

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.173722	Polymorphism

DBSNP ID

1 combination linked to KMT2D:c.10256A>G, p.Asp3419Gly

1 disease linked to KMT2D:c.10256A>G, p.Asp3419Gly

Congenital hypothyroidism

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