Variant (rsID / SNP)

rs391859

rs391859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A2. Location: chromosome 13, position 111,160,304. Clinical significance in the table: Benign.

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Reference-table entries

COL4A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:111160304
Cytoband: 13q34
HGVS: NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=)
Allele change: Synonymous_A1539A

Associated conditions / phenotypes

Porencephaly 2

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.