Variant (rsID / SNP)

rs150765660

rs150765660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUTS2. Location: chromosome 7, position 69,583,176. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AUTS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:69583176
Cytoband: 7q11.22
HGVS: NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
Allele change: Missense_S194F

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.