Variant (rsID / SNP)

rs12552100

rs12552100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDRD7. Location: chromosome 9, position 100,234,633. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TDRD7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:100234633
Cytoband: 9q22.33
HGVS: NM_014290.3(TDRD7):c.1800T>C (p.Cys600=)
Allele change: Synonymous_C526C

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.