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Variant (rsID / SNP)

rs1057518811

DEAF1

rs1057518811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEAF1. Location: chromosome 11, position 686,995. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DEAF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:686995
Cytoband
11p15.5
HGVS
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser)
Allele change
Missense_G223S

Associated conditions / phenotypes

9 conditions|Intellectual disability-epilepsy-extrapyramidal syndrome

Public references

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