Variant (rsID / SNP)

rs267607190

rs267607190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ISCU. Location: chromosome 12, position 108,958,089. Clinical significance in the table: Pathogenic.

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Reference-table entries

ISCUPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:108958089
Cytoband: 12q23.3
HGVS: NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)
Allele change: Missense_G50E

Associated conditions / phenotypes

Hereditary myopathy with lactic acidosis due to ISCU 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.