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Variant (rsID / SNP)

rs201941476

SERAC1

rs201941476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERAC1. Location: chromosome 6, position 158,537,225. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SERAC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:158537225
Cytoband
6q25.3
HGVS
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
Allele change
Missense_S498T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.