Variant (rsID / SNP)

rs587777522

rs587777522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADNP. Location: chromosome 20, position 49,508,757. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ADNPPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 20:49508757
Cytoband: 20q13.13
HGVS: NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)

Associated conditions / phenotypes

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|Intellectual disability

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.