Variant (rsID / SNP)

rs193922693

rs193922693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,675,519. 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: 2:73675519
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
Allele change: Missense_Y621C

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.