Variant (rsID / SNP)

rs61747281

rs61747281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEPSECS. Location: chromosome 4, position 25,153,606. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SEPSECSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:25153606
Cytoband: 4p15.2
HGVS: NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
Allele change: Synonymous_S260S

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 2D

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.