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Variant (rsID / SNP)

rs143959492

IHH

rs143959492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IHH. Location: chromosome 2, position 219,920,114. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IHHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:219920114
Cytoband
2q35
HGVS
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
Allele change
Missense_V351M

Public references

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