Variant (rsID / SNP)

rs730882246

rs730882246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ISCA2, NPC2. Location: chromosome 14, position 74,961,032. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ISCA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:74961032
Cytoband: 14q24.3
HGVS: NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
Allele change: Missense_G77S

Associated conditions / phenotypes

8 conditions|Multiple mitochondrial dysfunctions syndrome 4|Fatal multiple mitochondrial dysfunctions 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.