Variant (rsID / SNP)

rs138039383

rs138039383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,236,390. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:65236390
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
Allele change: Missense_I1952T

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.