Variant (rsID / SNP)

rs143595073

rs143595073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK2. Location: chromosome 11, position 70,331,937. Clinical significance in the table: Likely benign.

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Reference-table entries

SHANK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:70331937
Cytoband: 11q13.3
HGVS: NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=)
Allele change: Synonymous_A899A

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.