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Variant (rsID / SNP)

rs886041116

ADNP

rs886041116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADNP. Location: chromosome 20, position 49,509,063. 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
single nucleotide variant
Chromosome / position
20:49509063
Cytoband
20q13.13
HGVS
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
Allele change
Nonsense_R730X

Associated conditions / phenotypes

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|8 conditions|Inborn genetic diseases

Public references

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