Variant (rsID / SNP)

rs121909543

rs121909543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANG, EGILA, RNASE4. Location: chromosome 14, position 21,162,130. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ANGLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:21162130
Cytoband: 14q11.2
HGVS: NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)
Allele change: Missense_P136L

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.