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Details for LAMA2:c.4879C>T, p.Arg1627Trp

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
129691055	129369910

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4879C>T

PROTEIN CHANGE

p.Arg1627Trp

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
4.386e-05	0.0	8.679e-05	0.0	0.0004353	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.804842	Polymorphism

DBSNP ID

1 combination linked to LAMA2:c.4879C>T, p.Arg1627Trp

1 disease linked to LAMA2:c.4879C>T, p.Arg1627Trp

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