Variant (rsID / SNP)

rs201430068

rs201430068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA6. Location: chromosome 2, position 173,352,757. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITGA6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:173352757
Cytoband: 2q31.1
HGVS: NM_000210.4(ITGA6):c.2393C>T (p.Ser798Leu)
Allele change: Missense_S679L

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.