Variant (rsID / SNP)

rs863225044

rs863225044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,397,085. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALDH18A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:97397085
Cytoband: 10q24.1
HGVS: NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)
Allele change: Missense_R27W

Associated conditions / phenotypes

Cutis laxa, autosomal dominant 3

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.