Variant (rsID / SNP)

rs112571971

rs112571971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDZD7. Location: chromosome 10, position 102,775,529. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDZD7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:102775529
Cytoband: 10q24.31
HGVS: NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
Allele change: Missense_G538E

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.