Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139640415

ALDH4A1

rs139640415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH4A1. Location: chromosome 1, position 19,212,007. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ALDH4A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:19212007
Cytoband
1p36.13
HGVS
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
Allele change
Missense_P138L

Associated conditions / phenotypes

Deficiency of pyrroline-5-carboxylate reductase|Intellectual disability

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.