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Details for LRRC18:c.416_417delCAinsTG, p.Thr139Met

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
50121784	48913739

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TG

ALTERNATE ALLELE

CA

TRANSCRIPT

N.A.

CDNA CHANGE

c.416_417delCAinsTG

PROTEIN CHANGE

p.Thr139Met

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.613069	None

DBSNP ID

1 combination linked to LRRC18:c.416_417delCAinsTG, p.Thr139Met

1 disease linked to LRRC18:c.416_417delCAinsTG, p.Thr139Met

Rare pervasive developmental disorder

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