Variant detail
mut_id 167 · c.415-1G>A
Evidence at a glance
0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point Splicing Likely pathogenic
HGVS
c.415-1G>A
rsID
rs1554785114
ClinVar ID
667364
GRCh38 coordinate
133425937
Location
intron 4
gnomAD AF
0.00000433
Domain
Not available
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
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.415-1G>A
cdna_numb_HGVS
415
cdna_numb_legacy
415
nt_change
G>A
n_bp
1
nuc_numb
415
g_numb
g16
coordinate_GRCh38
133425937
gnomAD_AC
7
gnomAD_AN
1613508
gnomAD_AF
0.00000433
clinvar_id
667364
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
1
Patients linked by mut_id
No linked patients found.