Variant (rsID / SNP)

rs73998915

rs73998915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHBDF2. Location: chromosome 17, position 74,469,779. Clinical significance in the table: Benign.

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Reference-table entries

RHBDF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:74469779
Cytoband: 17q25.1
HGVS: NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val)
Allele change: Missense_M591V

Associated conditions / phenotypes

Palmoplantar keratoderma-esophageal carcinoma syndrome

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.