Variant (rsID / SNP)

rs77786415

rs77786415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A2. Location: chromosome 13, position 111,164,315. Clinical significance in the table: Likely benign.

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Reference-table entries

COL4A2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:111164315
Cytoband: 13q34
HGVS: NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu)
Allele change: Missense_S1639L

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.