This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for LAMA1:c.7141C>T, p.Arg2381Cys

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
6965341	6965342

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.7141C>T

PROTEIN CHANGE

p.Arg2381Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.0	0.0058	0.0	0.003	0.0072

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00243	0.0003076	0.001012	0.0	5.437e-05	0.0001848	0.002734	0.001629	0.008003

ESP
AA	EA
0.0004539	0.001628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.520071	Polymorphism

DBSNP ID

1 combination linked to LAMA1:c.7141C>T, p.Arg2381Cys

1 disease linked to LAMA1:c.7141C>T, p.Arg2381Cys

X-linked cerebellar ataxia

Found any issues with the data on this page? Report this entry.