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Variant (rsID / SNP)

rs200015085

SHOC2

rs200015085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOC2. Location: chromosome 10, position 112,724,726. 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
10:112724726
Cytoband
10q25.2
HGVS
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
Allele change
Missense_I204V

Associated conditions / phenotypes

RASopathy|Noonan syndrome-like disorder with loose anagen hair 1

Public references

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