Variant (rsID / SNP)

rs115577291

rs115577291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,388,530. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SH3TC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:148388530
Cytoband: 5q32
HGVS: NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val)
Allele change: Missense_A1121V

Associated conditions / phenotypes

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