Variant (rsID / SNP)

rs1800435

rs1800435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAD. Location: chromosome 9, position 116,153,891. Clinical significance in the table: Benign.

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Reference-table entries

ALADBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:116153891
Cytoband: 9q32
HGVS: NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
Allele change: Missense_K51N

Associated conditions / phenotypes

AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM|Porphobilinogen synthase deficiency

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.