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Details for KMT2D:c.13951C>T, p.His4651Tyr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
49424111	49030328

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.13951C>T

PROTEIN CHANGE

p.His4651Tyr

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
4.361e-05	0.0	9.212e-05	0.0	0.0	0.0	5.837e-05	0.0001781	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.716935	Polymorphism

DBSNP ID

1 combination linked to KMT2D:c.13951C>T, p.His4651Tyr

1 disease linked to KMT2D:c.13951C>T, p.His4651Tyr

Congenital hypothyroidism

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