Variant (rsID / SNP)

rs112986465

rs112986465 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,513,810. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LAMA3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:21513810
Cytoband: 18q11.2
HGVS: NM_198129.4(LAMA3):c.8773G>A (p.Gly2925Arg)
Allele change: Missense_G2869R

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.