Variant (rsID / SNP)

rs9616915

rs9616915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK3. Location: chromosome 22, position 51,117,580. Clinical significance in the table: Benign.

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Reference-table entries

SHANK3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:51117580
Cytoband: 22q13.33
HGVS: NM_033517.1(SHANK3):c.734T>C (p.Ile245Thr)
Allele change: Missense_I245T

Associated conditions / phenotypes

History of neurodevelopmental disorder|Phelan-McDermid syndrome

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.