Variant (rsID / SNP)

rs77113162

rs77113162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA2. Location: chromosome 6, position 129,828,704. Clinical significance in the table: Benign.

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Reference-table entries

LAMA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:129828704
Cytoband: 6q22.33
HGVS: NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)
Allele change: Missense_P2925L

Associated conditions / phenotypes

LAMA2-related muscular dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.