Variant (rsID / SNP)

rs13914

rs13914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,897,631. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL5A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:189897631
Cytoband: 2q32.2
HGVS: NM_000393.5(COL5A2):c.*1165G>A
Allele change: Silent

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 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.