Variant (rsID / SNP)

rs144288263

rs144288263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESCO2. Location: chromosome 8, position 27,645,482. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ESCO2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:27645482
Cytoband: 8p21.1
HGVS: NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)
Allele change: Missense_R365K

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.