Variant (rsID / SNP)

rs386834005

rs386834005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM37. Location: chromosome 17, position 57,148,248. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRIM37Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:57148248
Cytoband: 17q22
HGVS: NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
Allele change: Nonsense_Q249X

Associated conditions / phenotypes

Mulibrey nanism 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.