Variant (rsID / SNP)

rs35221558

rs35221558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEMD3. Location: chromosome 12, position 65,564,283. Clinical significance in the table: Likely benign.

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Reference-table entries

LEMD3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:65564283
Cytoband: 12q14.3
HGVS: NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys)
Allele change: Missense_G303C

Associated conditions / phenotypes

Dermatofibrosis lenticularis disseminata

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.