Variant (rsID / SNP)

rs61735289

rs61735289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4, GALK1. Location: chromosome 17, position 73,747,128. Clinical significance in the table: Benign.

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Reference-table entries

ITGB4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:73747128
Cytoband: 17q25.1
HGVS: NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=)
Allele change: Synonymous_P1243P

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.