Variant (rsID / SNP)

rs267607258

rs267607258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPV17. Location: chromosome 2, position 27,535,443. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPV17Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:27535443
Cytoband: 2p23.3
HGVS: NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
Allele change: Missense_P98L

Associated conditions / phenotypes

Navajo neurohepatopathy|MPV17-Related Disorders|Charcot-Marie-Tooth disease, axonal, type 2EE

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.