Variant (rsID / SNP)

rs180795245

rs180795245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,355,765. Clinical significance in the table: Likely benign.

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Reference-table entries

LAMA3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:21355765
Cytoband: 18q11.2
HGVS: NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser)
Allele change: Missense_C428S

Associated conditions / phenotypes

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.