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Variant (rsID / SNP)

rs149121639

VPS33B

rs149121639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS33B. Location: chromosome 15, position 91,548,307. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VPS33BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:91548307
Cytoband
15q26.1
HGVS
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
Allele change
Missense_I383T

Associated conditions / phenotypes

Arthrogryposis, renal dysfunction, and cholestasis 1|Microcephaly

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.