Variant (rsID / SNP)

rs137852757

rs137852757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA3. Location: chromosome 18, position 21,487,603. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMA3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:21487603
Cytoband: 18q11.2
HGVS: NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)
Allele change: Nonsense_R2214X

Associated conditions / phenotypes

Junctional epidermolysis bullosa gravis of Herlitz|Epidermolysis bullosa, junctional 2B, 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.