Variant (rsID / SNP)

rs187556554

rs187556554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHBDF2. Location: chromosome 17, position 74,475,271. 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: 17:74475271
Cytoband: 17q25.1
HGVS: NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys)
Allele change: Missense_R150C

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.