Variant (rsID / SNP)

rs142093416

rs142093416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,927,257. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL4A4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:227927257
Cytoband: 2q36.3
HGVS: NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)
Allele change: Missense_D682G

Associated conditions / phenotypes

Autosomal recessive Alport syndrome|Alport 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.