Variant (rsID / SNP)

rs387907037

rs387907037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INF2. Location: chromosome 14, position 105,168,085. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

INF2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:105168085
Cytoband: 14q32.33
HGVS: NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
Allele change: Missense_L128P

Associated conditions / phenotypes

Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E|Focal segmental glomerulosclerosis 5

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.