Variant detail

mut_id 178 · c.1435+1dupG

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Splicing Splicing
HGVS
c.1435+1dupG
rsID
rs782472621
GRCh38 coordinate
133436954
Location
exon 12
gnomAD AF
0.00000125
Domain
Not available
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient
Authors: Lozano Jaramillo DA, Jimenez Ochoa MA.
Source: J Med Cases (2021)
Citation: J Med Cases. 2021 Sep;12(9):339-342. doi: 10.14740/jmc3737. Epub 2021 Aug 25.
PubMed: 34527101 · DOI: 10.14740/jmc3737
Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
Authors: Rashid A, Mushtaq N, Mansoori H.
Source: Cureus (2020)
Citation: Cureus. 2020 Dec 13;12(12):e12053. doi: 10.7759/cureus.12053.
PubMed: 33447482 · DOI: 10.7759/cureus.12053

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

Countries represented
Taiwan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=12; range=12–12
Platelet count
n=1; median=13; range=13–13

Variant fields

mut_syn_HGVS
c.1435+1dupG
cdna_numb_HGVS
1435
cdna_numb_legacy
1435
nt_change
Duplication
n_bp
1
nuc_numb
1435
g_numb
g16
codon_first
GG
codon_last
GGG
coordinate_GRCh38
133436954
gnomAD_AC
2
gnomAD_AN
1597288
gnomAD_AF
0.00000125
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
38, 46

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
16 178 326 46 cTTP compound_heterozygous Taiwan female <1 12 <5 13 no infection PI