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Variant (rsID / SNP)

rs28730854

ALMS1

rs28730854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,679,956. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALMS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:73679956
Cytoband
2p13.1
HGVS
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
Allele change
Missense_S2100L

Associated conditions / phenotypes

Alstrom syndrome|Monogenic diabetes

Public references

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