Variant (rsID / SNP)

rs776228346

rs776228346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,226,492. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MBD5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:149226492
Cytoband: 2q23.1
HGVS: NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
Allele change: Missense_M327T

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 1

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.