Variant (rsID / SNP)

rs11554508

rs11554508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFN2. Location: chromosome 1, position 12,061,532. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MFN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:12061532
Cytoband: 1p36.22
HGVS: NM_014874.4(MFN2):c.891C>T (p.Ala297=)
Allele change: Synonymous_A297A

Associated conditions / phenotypes

Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease

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.