Variant (rsID / SNP)

rs200327514

rs200327514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM127. Location: chromosome 2, position 96,919,691. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TMEM127Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:96919691
Cytoband: 2q11.2
HGVS: NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)
Allele change: Missense_T191M

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.