Variant (rsID / SNP)

rs201785518

rs201785518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKLE2. Location: chromosome 12, position 133,306,404. Clinical significance in the table: Pathogenic.

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Reference-table entries

ANKLE2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:133306404
Cytoband: 12q24.33
HGVS: NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter)
Allele change: Nonsense_Q782X

Associated conditions / phenotypes

Microcephaly 16, primary, autosomal recessive|Microcephaly

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.