Variant (rsID / SNP)

rs750870974

rs750870974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,920,586. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TMEM127Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:96920586
Cytoband: 2q11.2
HGVS: NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)
Allele change: Missense_A132T

Associated conditions / phenotypes

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

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.