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Variant (rsID / SNP)

rs574669908

SH3TC2

rs574669908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3TC2. Location: chromosome 5, position 148,424,196. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SH3TC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:148424196
Cytoband
5q32
HGVS
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
Allele change
Synonymous_L95L

Associated conditions / phenotypes

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

Public references

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