Variant (rsID / SNP)

rs61749943

rs61749943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,529,730. 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: 18:21529730
Cytoband: 18q11.2
HGVS: NM_198129.4(LAMA3):c.9353G>A (p.Ser3118Asn)
Allele change: Missense_S3062N

Associated conditions / phenotypes

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

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.