Variant (rsID / SNP)

rs145976111

rs145976111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB4. Location: chromosome 17, position 73,738,809. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ITGB4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:73738809
Cytoband: 17q25.1
HGVS: NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)
Allele change: Missense_R977C

Associated conditions / phenotypes

Junctional epidermolysis bullosa with pyloric atresia|Nephrotic syndrome

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.