Variant (rsID / SNP)
rs140952583
rs140952583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,901,388. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL5A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:189901388
- Cytoband
- 2q32.2
- HGVS
- NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
- Allele change
- Missense_D1356G
Associated conditions / phenotypes
Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Thrombocytopenia|Abnormal bleeding|Ehlers-Danlos syndrome|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.