Variant (rsID / SNP)

rs3768593

rs3768593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,212,548. Clinical significance in the table: Benign.

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Reference-table entries

LAMC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:183212548
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.*13T>G
Allele change: Silent

Associated conditions / phenotypes

Junctional epidermolysis bullosa|Junctional epidermolysis bullosa gravis of Herlitz

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.