Variant (rsID / SNP)

rs142934543

rs142934543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 6,977,814. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:6977814
Cytoband: 18p11.31
HGVS: NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr)
Allele change: Missense_K2086T

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.