Variant (rsID / SNP)

rs192496253

rs192496253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,835,681. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALMS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:73835681
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
Allele change: Nonsense_R4147X

Associated conditions / phenotypes

Alstrom 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.