Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs771943519

COL4A4

rs771943519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 228,009,260. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL4A4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Deletion
Chromosome / position
2:228009260
Cytoband
2q36.3
HGVS
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])

Associated conditions / phenotypes

Autosomal dominant Alport syndrome|Alport syndrome|Hematuria|Benign familial hematuria|Autosomal recessive Alport syndrome|Microscopic hematuria

Public references

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