Variant (rsID / SNP)
rs143164660
rs143164660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPM6. Location: chromosome 9, position 77,411,729. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRPM6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:77411729
- Cytoband
- 9q21.13
- HGVS
- NM_017662.5(TRPM6):c.2319G>C (p.Gln773His)
- Allele change
- Missense_Q768H
Associated conditions / phenotypes
Intestinal hypomagnesemia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.