Variant (rsID / SNP)

rs148223897

rs148223897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN14. Location: chromosome 21, position 37,833,809. 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: 21:37833809
Cytoband: 21q22.13
HGVS: NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
Allele change: Missense_Y62C

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.