Variant detail

mut_id 3 · c.84G>A · p.Trp28Ter

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Likely pathogenic Residue 28
HGVS
c.84G>A
Protein change
p.Trp28Ter
rsID
rs2130769073
ClinVar ID
1677266
GRCh38 coordinate
133422527
Location
exon 1
gnomAD AF
6.20E-07
Domain
Signal peptide
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Exome sequencing for diagnosis of congenital hemolytic anemia
Authors: Mansour-Hendili L, Aissat A, Badaoui B, Sakka M, Gameiro C, Ortonne V, Wagner-Ballon O, Pissard S, Picard V, Ghazal K, Bahuau M, Guitton C, Mansour Z, Duplan M, Petit A, Costedoat-Chalumeau N, Michel M, Bartolucci P, Moutereau S, Funalot B, Galactéros F
Source: Orphanet J Rare Dis (2020)
Citation: Orphanet J Rare Dis. 2020 Jul 8;15(1):180
PubMed: 32641076 · DOI: 10.1186/s13023-020-01425-5.

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 28 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Signal peptide
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.84G>A
cdna_numb_HGVS
84
cdna_numb_legacy
84
nt_change
G>A
n_bp
1
nuc_numb
84
g_numb
g16
aa_numb_HGVS
28
aa_numb_legacy
28
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp28Ter
codon_first
TGG
codon_last
TGA
coordinate_GRCh38
133422527
gnomAD_AC
1
gnomAD_AN
1614118
gnomAD_AF
6.20E-07
clinvar_id
1677266
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
316

Patients linked by mut_id

No linked patients found.