Variant (rsID / SNP)

rs116605132

rs116605132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCN2. Location: chromosome 22, position 31,006,882. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TCN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:31006882
Cytoband: 22q12.2
HGVS: NM_000355.4(TCN2):c.89T>G (p.Leu30Arg)
Allele change: Missense_L30R

Associated conditions / phenotypes

Transcobalamin II deficiency

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.