Variant (rsID / SNP)

rs62621875

rs62621875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A2. Location: chromosome 13, position 111,143,681. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL4A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:111143681
Cytoband: 13q34
HGVS: NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)
Allele change: Missense_Q1150K

Associated conditions / phenotypes

Intracerebral hemorrhage|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.