Variant (rsID / SNP)

rs150857128

rs150857128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK2. Location: chromosome 11, position 70,319,533. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SHANK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:70319533
Cytoband: 11q13.3
HGVS: NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr)
Allele change: Missense_I1076T

Associated conditions / phenotypes

Autism, susceptibility to, 17

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.