Variant (rsID / SNP)

rs560389

rs560389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BTBD8. Location: chromosome 1, position 92,647,223. The table records no clinical significance for this variant.

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Reference-table entries

BTBD8Not classified

Variant type: missense_variant
Chromosome / position: 1:92647223
HGVS: NM_001376131.1,c.3983A>G,p.Asn1328Ser
Allele change: Missense_N815S

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.