Variant (rsID / SNP)

rs199756061

rs199756061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUTS2. Location: chromosome 7, position 70,236,574. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AUTS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:70236574
Cytoband: 7q11.22
HGVS: NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala)
Allele change: Missense_P592A

Associated conditions / phenotypes

Intellectual disability

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.