Variant (rsID / SNP)

rs786205142

rs786205142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIX6. Location: chromosome 14, position 60,976,648. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SIX6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 14:60976648
Cytoband: 14q23.1
HGVS: NM_007374.3(SIX6):c.532_536del (p.Asn178fs)

Associated conditions / phenotypes

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

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.