Variant detail
mut_id 385 · c.988-2A>G
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point Splicing
HGVS
c.988-2A>G
GRCh38 coordinate
133432586
Location
intron 8
Domain
Not available
Gene
ADAMTS13
External links
References
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Interactive AlphaFold structure
A residue-position-based structure view is only available when this variant has a numeric amino-acid position
in
aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.988-2A>G
cdna_numb_HGVS
988
cdna_numb_legacy
988
nt_change
A>G
n_bp
1
nuc_numb
988
g_numb
g16
coordinate_GRCh38
133432586
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76
Patients linked by mut_id
No linked patients found.