Variant (rsID / SNP)

rs143539004

rs143539004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESCO2. Location: chromosome 8, position 27,634,402. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ESCO2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:27634402
Cytoband: 8p21.1
HGVS: NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)
Allele change: Missense_R193W

Associated conditions / phenotypes

Roberts-SC phocomelia 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.