Variant (rsID / SNP)

rs869312668

rs869312668 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EBF3. Location: chromosome 10, position 131,755,546. Clinical significance in the table: Pathogenic.

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Reference-table entries

EBF3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:131755546
Cytoband: 10q26.3
HGVS: NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)
Allele change: Missense_P177L

Associated conditions / phenotypes

Hypotonia, ataxia, and delayed development 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.