Variant (rsID / SNP)

rs267607035

rs267607035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEPSECS. Location: chromosome 4, position 25,153,671. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SEPSECSPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:25153671
Cytoband: 4p15.2
HGVS: NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
Allele change: Missense_A239T

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 2D|Pontoneocerebellar hypoplasia

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.