Variant (rsID / SNP)

rs137891647

rs137891647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIPT1. Location: chromosome 2, position 99,779,295. Clinical significance in the table: Pathogenic.

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Reference-table entries

LIPT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:99779295
Cytoband: 2q11.2
HGVS: NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
Allele change: Silent

Associated conditions / phenotypes

Lipoyl transferase 1 deficiency

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.