Variant (rsID / SNP)

rs200572899

rs200572899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK3. Location: chromosome 22, position 51,159,408. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SHANK3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:51159408
Cytoband: 22q13.33
HGVS: NM_033517.1(SHANK3):c.3147C>T (p.Pro1049=)
Allele change: Synonymous_P1035P

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.