Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34442879

BCKDHA

rs34442879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,920,030. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BCKDHABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:41920030
Cytoband
19q13.2
HGVS
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
Allele change
Missense_T151M

Associated conditions / phenotypes

Maple syrup urine disease|Maple syrup urine disease type 1A

Public references

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