Variant (rsID / SNP)

rs587777523

rs587777523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADNP. Location: chromosome 20, position 49,508,752. Clinical significance in the table: Pathogenic.

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Reference-table entries

ADNPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 20:49508752
Cytoband: 20q13.13
HGVS: NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)

Associated conditions / phenotypes

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