Variant (rsID / SNP)

rs141164795

rs141164795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,519,222. Clinical significance in the table: Benign.

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Reference-table entries

LAMA3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:21519222
Cytoband: 18q11.2
HGVS: NM_198129.4(LAMA3):c.8898C>T (p.Ser2966=)
Allele change: Synonymous_S2910S

Associated conditions / phenotypes

Laryngo-onycho-cutaneous syndrome|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.