Variant (rsID / SNP)

rs12065961

rs12065961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN19. Location: chromosome 1, position 43,205,696. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLDN19Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:43205696
Cytoband: 1p34.2
HGVS: NM_148960.3(CLDN19):c.39G>T (p.Leu13Phe)
Allele change: Missense_L13F

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.