Variant (rsID / SNP)

rs555444131

rs555444131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDZD7. Location: chromosome 10, position 102,778,028. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDZD7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 10:102778028
Cytoband: 10q24.31
HGVS: NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)

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.