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Details for LAMA1:c.6074C>T, p.Thr2025Met

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
6978311	6978312

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6074C>T

PROTEIN CHANGE

p.Thr2025Met

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
3.181e-05	0.0	0.0	0.0	0.0	0.0	3.517e-05	0.0001629	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.146365	Polymorphism

DBSNP ID

1 combination linked to LAMA1:c.6074C>T, p.Thr2025Met

1 disease linked to LAMA1:c.6074C>T, p.Thr2025Met

X-linked cerebellar ataxia

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