Variant (rsID / SNP)

rs2737085

rs2737085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA6. Location: chromosome 2, position 173,352,507. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ITGA6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:173352507
Cytoband: 2q31.1
HGVS: NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr)
Allele change: Missense_D647Y

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.