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Variant (rsID / SNP)

rs121908830

TMEM127

rs121908830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,919,788. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMEM127Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:96919788
Cytoband
2q11.2
HGVS
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
Allele change
Nonsense_Q159X

Associated conditions / phenotypes

Pheochromocytoma, susceptibility to|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.