Variant (rsID / SNP)

rs121912930

rs121912930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A2. Location: chromosome 2, position 189,907,903. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL5A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:189907903
Cytoband: 2q32.2
HGVS: NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
Allele change: Missense_G1149R

Associated conditions / phenotypes

Ehlers-Danlos syndrome, classic type

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.