Variant (rsID / SNP)

rs78821209

rs78821209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UACA. Location: chromosome 15, position 70,961,649. Clinical significance in the table: Likely benign.

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Reference-table entries

UACALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:70961649
Cytoband: 15q23
HGVS: NM_018003.4(UACA):c.1374A>C (p.Gln458His)
Allele change: Missense_Q458H

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.