Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
COL1A2
Variant:
p.G619R
Back to variants list
COL1A2
NM_000089.4:p.G619R
hg38:chr7:94416495 G>A
Frequencies & domains
Associated Papers
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
Bateman JF et al.
Human Mutation,
1998
9452103 (PubMed
)
Select a paper to view details