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Variant (rsID / SNP)

rs146312522

ESCO2

rs146312522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESCO2. Location: chromosome 8, position 27,646,407. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ESCO2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:27646407
Cytoband
8p21.1
HGVS
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)
Allele change
Missense_C392Y

Associated conditions / phenotypes

Roberts-SC phocomelia syndrome

Public references

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