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Variant (rsID / SNP)

rs147276945

AHDC1

rs147276945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHDC1. Location: chromosome 1, position 27,877,216. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AHDC1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:27877216
Cytoband
1p36.11
HGVS
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met)
Allele change
Missense_V471M

Associated conditions / phenotypes

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Public references

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