Variant (rsID / SNP)

rs1057519493

rs1057519493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP1. Location: chromosome 17, position 5,487,081. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NLRP1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:5487081
Cytoband: 17p13.2
HGVS: NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)
Allele change: Missense_A66V

Associated conditions / phenotypes

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis 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.