Variant (rsID / SNP)

rs200788729

rs200788729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DHTKD1. Location: chromosome 10, position 12,150,003. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

DHTKD1Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 10:12150003
Cytoband: 10p14
HGVS: NM_018706.7(DHTKD1):c.2143C>T (p.Arg715Cys)
Allele change: Missense_R715C

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.