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Variant (rsID / SNP)

rs144549206

LAMA3

rs144549206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,508,191. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LAMA3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:21508191
Cytoband
18q11.2
HGVS
NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu)
Allele change
Missense_S2705L

Associated conditions / phenotypes

Laryngo-onycho-cutaneous syndrome|Junctional epidermolysis bullosa gravis of Herlitz

Public references

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