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Variant (rsID / SNP)

rs200368564

ALMS1

rs200368564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,680,015. 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
2:73680015
Cytoband
2p13.1
HGVS
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)
Allele change
Missense_V2120L

Associated conditions / phenotypes

Monogenic diabetes|Alstrom syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.