Variant (rsID / SNP)

rs764337688

rs764337688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDRD7. Location: chromosome 9, position 100,235,830. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TDRD7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:100235830
Cytoband: 9q22.33
HGVS: NM_014290.3(TDRD7):c.2001C>G (p.Leu667=)
Allele change: Synonymous_L593L

Associated conditions / phenotypes

Cataract 36

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.