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Variant (rsID / SNP)

rs141715248

SH3TC2

rs141715248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,388,459. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SH3TC2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
5:148388459
Cytoband
5q32
HGVS
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
Allele change
Missense_A1145P

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.