Variant (rsID / SNP)

rs146180696

rs146180696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FERMT1. Location: chromosome 20, position 6,078,218. Clinical significance in the table: Pathogenic.

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Reference-table entries

FERMT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:6078218
Cytoband: 20p12.3
HGVS: NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter)
Allele change: Nonsense_E304X

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.