Variant (rsID / SNP)

rs398122992

rs398122992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,800,117. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALMS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:73800117
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)

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.