Variant (rsID / SNP)

rs11651270

rs11651270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP1. Location: chromosome 17, position 5,425,077. Clinical significance in the table: Benign.

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Reference-table entries

NLRP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:5425077
Cytoband: 17p13.2
HGVS: NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)
Allele change: Missense_M1188V

Associated conditions / phenotypes

Autoinflammation with arthritis and dyskeratosis|Respiratory papillomatosis, juvenile recurrent, congenital|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.