Variant (rsID / SNP)

rs121912467

rs121912467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4, GALK1. Location: chromosome 17, position 73,748,302. Clinical significance in the table: Pathogenic.

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Reference-table entries

ITGB4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:73748302
Cytoband: 17q25.1
HGVS: NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)
Allele change: Missense_R1281W

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.