RS117422805 LAMA2

Health Risk Chr 6:129280071 snv missense variant

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What This Variant Does

"CLNSIG=4

Associated Conditions

Merosin deficient congenital muscular dystrophy

LAMA2-related muscular dystrophy

Intellectual disability

Congenital muscular dystrophy due to partial LAMA2 deficiency

Muscular dystrophy

limb-girdle

autosomal recessive 23

Merosin deficient congenital muscular dystrophy

LAMA2-related muscular dystrophy

Intellectual disability

Congenital muscular dystrophy due to partial LAMA2 deficiency

Muscular dystrophy

limb-girdle

autosomal recessive 23

Population Frequencies

gnomAD ALL

99.8%

1kG AFR

100%

1kG ALL

0.1%

1kG AMR

100%

1kG EAS

0.1%

1kG EUR

99.8%

1kG SAS

0.1%

Other Variants in LAMA2