Variant (rsID / SNP)

rs143346525

rs143346525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHDC1. Location: chromosome 1, position 27,877,117. 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: 1:27877117
Cytoband: 1p36.11
HGVS: NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met)
Allele change: Missense_V504M

Associated conditions / phenotypes

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

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.