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Variant (rsID / SNP)

rs138874769

ITGA6

rs138874769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA6. Location: chromosome 2, position 173,355,989. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ITGA6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:173355989
Cytoband
2q31.1
HGVS
NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu)
Allele change
Missense_P821L

Associated conditions / phenotypes

Junctional epidermolysis bullosa with pyloric atresia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.