Variant (rsID / SNP)

rs758726687

rs758726687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,920,692. Clinical significance in the table: Likely benign.

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Reference-table entries

TMEM127Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:96920692
Cytoband: 2q11.2
HGVS: NM_017849.4(TMEM127):c.288C>T (p.Ile96=)
Allele change: Synonymous_I96I

Associated conditions / phenotypes

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

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.