Variant (rsID / SNP)

rs181238392

rs181238392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 251,207. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SDHAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:251207
Cytoband: 5p15.33
HGVS: NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
Allele change: Missense_T503M

Associated conditions / phenotypes

Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome|Paragangliomas 5

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.