Variant (rsID / SNP)

rs113467864

rs113467864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,206,648. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LAMC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:183206648
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.2754+9T>C
Allele change: Silent

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.