Variant (rsID / SNP)

rs199905054

rs199905054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSMCE3. Location: chromosome 15, position 29,561,120. Clinical significance in the table: Pathogenic.

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Reference-table entries

NSMCE3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:29561120
Cytoband: 15q13.1
HGVS: NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)
Allele change: Silent

Associated conditions / phenotypes

Lung damage, immunodeficiency and chromosome breakage syndrome|Lung disease, immunodeficiency, and chromosome breakage syndrome

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.