Variant (rsID / SNP)

rs2296306

rs2296306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,191,324. Clinical significance in the table: Benign.

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Reference-table entries

LAMC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:183191324
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.741C>A (p.Asp247Glu)
Allele change: Missense_D247E

Associated conditions / phenotypes

Junctional epidermolysis bullosa

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.