Variant (rsID / SNP)

rs140913043

rs140913043 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN19. Location: chromosome 1, position 43,205,670. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLDN19Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:43205670
Cytoband: 1p34.2
HGVS: NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr)
Allele change: Missense_I22T

Associated conditions / phenotypes

Renal hypomagnesemia 5 with ocular involvement

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.