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Variant (rsID / SNP)

rs121912827

COL4A3

rs121912827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A3. Location: chromosome 2, position 228,153,938. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL4A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:228153938
Cytoband
2q36.3
HGVS
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
Allele change
Missense_G985V

Associated conditions / phenotypes

Benign familial hematuria|Autosomal recessive Alport syndrome|Alport syndrome

Public references

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