Variant (rsID / SNP)

rs765102002

rs765102002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,689. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SDHDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:111959689
Cytoband: 11q23.1
HGVS: NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
Allele change: Missense_A51S

Associated conditions / phenotypes

Carney-Stratakis syndrome|Pheochromocytoma|Paragangliomas 1|Cowden syndrome 3

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.