Variant (rsID / SNP)

rs17263582

rs17263582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TENM3. Location: chromosome 4, position 183,674,697. Clinical significance in the table: Benign.

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Reference-table entries

TENM3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:183674697
Cytoband: 4q35.1
HGVS: NM_001080477.4(TENM3):c.3957C>T (p.Gly1319=)
Allele change: Synonymous_G1319G

Associated conditions / phenotypes

Microphthalmia, isolated, with coloboma 9

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.