Variant (rsID / SNP)

rs398122995

rs398122995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,675,551. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALMS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:73675551
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter)
Allele change: Nonsense_Q632X

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.