Variant (rsID / SNP)

rs119478058

rs119478058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMN. Location: chromosome 14, position 103,390,126. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

AMNLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:103390126
Cytoband: 14q32.32
HGVS: NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
Allele change: Missense_T41I

Associated conditions / phenotypes

Imerslund-Grasbeck syndrome type 2|Imerslund-Grasbeck 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.