Variant (rsID / SNP)

rs183705877

rs183705877 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4. Location: chromosome 17, position 73,736,495. Clinical significance in the table: Likely benign.

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Reference-table entries

ITGB4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:73736495
Cytoband: 17q25.1
HGVS: NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)
Allele change: Missense_P835A

Associated conditions / phenotypes

Junctional epidermolysis bullosa with pyloric atresia

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.