Variant (rsID / SNP)

rs140048282

rs140048282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMLHE. Clinical significance in the table: Likely benign.

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Reference-table entries

TMLHELikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_018196.4(TMLHE):c.704C>A (p.Thr235Asn)
Allele change: Missense_T235N

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.