Variant (rsID / SNP)

rs78829338

rs78829338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A2. Location: chromosome 13, position 111,121,570. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL4A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:111121570
Cytoband: 13q34
HGVS: NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg)
Allele change: Missense_K701R

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.