Variant (rsID / SNP)
rs121908823
rs121908823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,920,712. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TMEM127Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:96920712
- Cytoband
- 2q11.2
- HGVS
- NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
- Allele change
- Missense_V90M
Associated conditions / phenotypes
Pheochromocytoma|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
