Variant (rsID / SNP)

rs1048612

rs1048612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH13. Location: chromosome 16, position 83,817,019. Clinical significance in the table: Benign.

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Reference-table entries

CDH13Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:83817019
Cytoband: 16q23.3
HGVS: NM_001257.5(CDH13):c.2076A>G (p.Ala692=)
Allele change: Synonymous_A739A

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.