Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs5030737

MBL2

rs5030737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBL2. Location: chromosome 10, position 54,531,242. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MBL2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:54531242
Cytoband
10q21.1
HGVS
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)
Allele change
Missense_R52C

Associated conditions / phenotypes

Mannose-binding lectin deficiency|Cystic fibrosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.