Variant (rsID / SNP)

rs142335339

rs142335339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,187,613. Clinical significance in the table: Likely benign.

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Reference-table entries

LAMC2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:183187613
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
Allele change: Missense_R165C

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.