Variant (rsID / SNP)

rs387907236

rs387907236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERAC1. Location: chromosome 6, position 158,567,859. Clinical significance in the table: Pathogenic.

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Reference-table entries

SERAC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:158567859
Cytoband: 6q25.3
HGVS: NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
Allele change: Nonsense_R148X

Associated conditions / phenotypes

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like 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.