Variant (rsID / SNP)

rs62200482

rs62200482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FERMT1. Location: chromosome 20, position 6,088,265. Clinical significance in the table: Benign.

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Reference-table entries

FERMT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:6088265
Cytoband: 20p12.3
HGVS: NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys)
Allele change: Missense_R255C

Associated conditions / phenotypes

Kindler syndrome

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.