Variant (rsID / SNP)

rs137852937

rs137852937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH4A1. Location: chromosome 1, position 19,203,992. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALDH4A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:19203992
Cytoband: 1p36.13
HGVS: NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
Allele change: Missense_S352L

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.