Variant (rsID / SNP)
rs117412802
rs117412802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A2. Location: chromosome 13, position 111,143,601. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
COL4A2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:111143601
- Cytoband
- 13q34
- HGVS
- NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
- Allele change
- Missense_E1123G
Associated conditions / phenotypes
Intracerebral hemorrhage|Porencephaly 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.