Variant (rsID / SNP)

rs781889971

rs781889971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMLHE. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMLHEUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)
Allele change: Nonsense_R77X

Associated conditions / phenotypes

Epsilon-trimethyllysine hydroxylase deficiency|Intellectual disability

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.