Variant (rsID / SNP)

rs2083771

rs2083771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBL2. Location: chromosome 10, position 54,525,678. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MBL2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:54525678
Cytoband: 10q21.1
HGVS: NM_001378373.1(MBL2):c.*2219A>C
Allele change: Silent

Associated conditions / phenotypes

Mannose-binding lectin 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.