Variant (rsID / SNP)

rs14235

rs14235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDK. Location: chromosome 16, position 31,121,793. Clinical significance in the table: Benign.

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Reference-table entries

BCKDKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:31121793
Cytoband: 16p11.2
HGVS: NM_005881.4(BCKDK):c.615G>A (p.Thr205=)
Allele change: Synonymous_T205T

Associated conditions / phenotypes

Branched-chain keto acid dehydrogenase kinase 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.