Variant (rsID / SNP)

rs3731881

rs3731881 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IHH. Location: chromosome 2, position 219,920,412. Clinical significance in the table: Benign.

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Reference-table entries

IHHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:219920412
Cytoband: 2q35
HGVS: NM_002181.4(IHH):c.753T>C (p.Pro251=)
Allele change: Synonymous_P251P

Associated conditions / phenotypes

Brachydactyly type A1|Acrocapitofemoral dysplasia

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.