Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs549894501

COL5A2

rs549894501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 190,044,256. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL5A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:190044256
Cytoband
2q32.2
HGVS
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
Allele change
Synonymous_K25K

Associated conditions / phenotypes

Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.