Variant (rsID / SNP)

rs201446579

rs201446579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,761,991. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALMS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:73761991
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
Allele change: Synonymous_T3273T

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.