Variant (rsID / SNP)

rs41273175

rs41273175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH4A1. Location: chromosome 1, position 19,203,725. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALDH4A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:19203725
Cytoband: 1p36.13
HGVS: NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)
Allele change: Missense_F388L

Associated conditions / phenotypes

Deficiency of pyrroline-5-carboxylate reductase

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.