Variant (rsID / SNP)

rs201289608

rs201289608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOC2. Location: chromosome 10, position 112,724,451. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SHOC2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:112724451
Cytoband: 10q25.2
HGVS: NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr)
Allele change: Missense_I112T

Associated conditions / phenotypes

RASopathy

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.