Variant (rsID / SNP)

rs55853803

rs55853803 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,388,420. Clinical significance in the table: Benign.

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Reference-table entries

SH3TC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:148388420
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile)
Allele change: Missense_V1158I

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Susceptibility to mononeuropathy of the median nerve, mild|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4C

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.