Variant (rsID / SNP)

rs1054629

rs1054629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IBSP. Location: chromosome 4, position 88,732,918. The table records no clinical significance for this variant.

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Reference-table entries

IBSPNot classified

Variant type: missense_variant
Chromosome / position: 4:88732918
HGVS: NM_004967.4,c.810A>T,p.Glu270Asp
Allele change: Missense_E270D

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.