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Variant (rsID / SNP)

rs146737847

SIX6

rs146737847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIX6. Location: chromosome 14, position 60,976,501. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SIX6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:60976501
Cytoband
14q23.1
HGVS
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
Allele change
Missense_E129K

Associated conditions / phenotypes

Anophthalmia/microphthalmia-esophageal atresia syndrome|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome|Anophthalmia-microphthalmia syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.