Variant (rsID / SNP)

rs121909536

rs121909536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANG. Location: chromosome 14, position 21,161,845. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANGConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:21161845
Cytoband: 14q11.2
HGVS: NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
Allele change: Missense_K41I

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 9

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.