Variant (rsID / SNP)

rs80356683

rs80356683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,184,602. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:183184602
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)
Allele change: Nonsense_R95X

Associated conditions / phenotypes

Junctional epidermolysis bullosa gravis of Herlitz|Epidermolysis bullosa, junctional 3B, severe

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.