Variant (rsID / SNP)

rs1064794269

rs1064794269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,349,122. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SDHBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17349122
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.746G>A (p.Cys249Tyr)
Allele change: Missense_C249Y

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.