Variant (rsID / SNP)

rs139145521

rs139145521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDZD7. Location: chromosome 10, position 102,783,808. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDZD7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:102783808
Cytoband: 10q24.31
HGVS: NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn)
Allele change: Missense_D82N

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.