Variant (rsID / SNP)

rs1052161

rs1052161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,828,538. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALMS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:73828538
Cytoband: 2p13.1
HGVS: NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)
Allele change: Missense_R4029K

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.