Variant (rsID / SNP)

rs188857186

rs188857186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,717,326. 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: 2:73717326
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
Allele change: Missense_V2746G

Associated conditions / phenotypes

Alstrom syndrome|Complete trisomy 21 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.