Variant (rsID / SNP)

rs140918123

rs140918123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN14. Location: chromosome 21, position 37,833,588. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLDN14Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:37833588
Cytoband: 21q22.13
HGVS: NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
Allele change: Missense_V136I

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.