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Variant (rsID / SNP)

rs143503813

RHBDF2

rs143503813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHBDF2. Location: chromosome 17, position 74,470,523. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RHBDF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:74470523
Cytoband
17q25.1
HGVS
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
Allele change
Missense_R495W

Associated conditions / phenotypes

Palmoplantar keratoderma-esophageal carcinoma syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.