Variant (rsID / SNP)

rs138629923

rs138629923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MID1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MID1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_000381.4(MID1):c.1489C>T (p.Leu497=)
Allele change: Synonymous_L497L

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.