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Variant (rsID / SNP)

rs143072070

ILDR1

rs143072070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILDR1. Location: chromosome 3, position 121,725,840. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ILDR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:121725840
Cytoband
3q13.33
HGVS
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
Allele change
Missense_A76V

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.