Variant (rsID / SNP)

rs786205436

rs786205436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,696. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:111959696
Cytoband: 11q23.1
HGVS: NM_003002.4(SDHD):c.275A>G (p.Asp92Gly)
Allele change: Missense_D53G

Associated conditions / phenotypes

Mitochondrial complex 2 deficiency, nuclear type 3|Fatal infantile mitochondrial cardiomyopathy

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.