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Variant (rsID / SNP)

rs117843717

SHANK2

rs117843717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK2. Location: chromosome 11, position 70,336,479. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SHANK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:70336479
Cytoband
11q13.3
HGVS
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)
Allele change
Missense_R230H

Associated conditions / phenotypes

Autism

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.