Variant (rsID / SNP)

rs1800517

rs1800517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,915,832. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL4A4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:227915832
Cytoband: 2q36.3
HGVS: NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu)
Allele change: Missense_P1004L

Associated conditions / phenotypes

Alport syndrome|Autosomal recessive 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.