Variant (rsID / SNP)

rs146329532

rs146329532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A1. Location: chromosome 13, position 110,822,076. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL4A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:110822076
Cytoband: 13q34
HGVS: NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)
Allele change: Missense_P1259R

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.