Variant (rsID / SNP)

rs148530934

rs148530934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINB6. Location: chromosome 6, position 2,954,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SERPINB6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:2954942
Cytoband: 6p25.2
HGVS: NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
Allele change: Missense_S124Y

Associated conditions / phenotypes

Usher 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.