Variant (rsID / SNP)

rs142036701

rs142036701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IHH. Location: chromosome 2, position 219,924,961. 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: 2:219924961
Cytoband: 2q35
HGVS: NM_002181.4(IHH):c.229C>A (p.Arg77Ser)
Allele change: Missense_R77S

Associated conditions / phenotypes

Brachydactyly type A1

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.