Variant (rsID / SNP)

rs144572936

rs144572936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMC2. Location: chromosome 1, position 183,192,386. 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: 1:183192386
Cytoband: 1q25.3
HGVS: NM_005562.3(LAMC2):c.880C>T (p.Leu294=)
Allele change: Synonymous_L294L

Associated conditions / phenotypes

Junctional epidermolysis bullosa|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.