Variant (rsID / SNP)

rs144519399

rs144519399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILDR1. Location: chromosome 3, position 121,713,043. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ILDR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:121713043
Cytoband: 3q13.33
HGVS: NM_001199799.2(ILDR1):c.764C>T (p.Pro255Leu)
Allele change: Missense_P166L

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.