Variant (rsID / SNP)

rs181479224

rs181479224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPDZ. Location: chromosome 9, position 13,223,592. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPDZConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:13223592
Cytoband: 9p23
HGVS: NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu)
Allele change: Missense_Q171E

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.