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Variant (rsID / SNP)

rs201478438

ALMS1

rs201478438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,650,097. 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
2:73650097
Cytoband
2p13.1
HGVS
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
Allele change
Synonymous_P253P

Associated conditions / phenotypes

Alstrom syndrome

Public references

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