Variant (rsID / SNP)

rs62622853

rs62622853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHANK2. Location: chromosome 11, position 70,333,498. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SHANK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:70333498
Cytoband: 11q13.3
HGVS: NM_012309.5(SHANK2):c.2900A>G (p.Tyr967Cys)
Allele change: Missense_Y379C

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.