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Variant (rsID / SNP)

rs121908824

TMEM127

rs121908824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,920,700. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMEM127Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:96920700
Cytoband
2q11.2
HGVS
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
Allele change
Missense_R94W

Associated conditions / phenotypes

Pheochromocytoma|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.