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Variant (rsID / SNP)

rs587779766

AHDC1

rs587779766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHDC1. Location: chromosome 1, position 27,876,253. Clinical significance in the table: Pathogenic.

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Reference-table entries

AHDC1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Microsatellite
Chromosome / position
1:27876253
Cytoband
1p36.11
HGVS
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)

Associated conditions / phenotypes

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|Delayed speech and language development|Neonatal hypotonia|Global developmental delay|Sleep apnea|Intellectual disability|Delayed speech and language development|Sleep apnea|Hypotonia

Public references

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