Variant (rsID / SNP)

rs76941691

rs76941691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDZD7. Location: chromosome 10, position 102,777,931. Clinical significance in the table: Benign.

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Reference-table entries

PDZD7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:102777931
Cytoband: 10q24.31
HGVS: NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn)
Allele change: Missense_D483N

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.