Variant detail

mut_id 231 · c.415-10G>A · p.Gly139Valfs*17

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Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point Splicing
HGVS
c.415-10G>A
Protein change
p.Gly139Valfs*17
Location
exon 4
Domain
Not available
Gene
ADAMTS13

References

Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734
Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease
Authors: Katneni UK, Hunt R, Hettiarachchi GK, Hamasaki-Katagiri N, Kimchi-Sarfaty C, Ibla JC.
Source: Thromb Res (2017)
Citation: Thromb Res. 2017 Oct;158:98-101. doi: 10.1016/j.thromres.2017.08.016. Epub 2017 Aug 24.
PubMed: 28866379 · DOI: 10.1016/j.thromres.2017.08.016

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
Japan (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
unknown (1); no (1)
Triggers
unknown (2)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=0.5; range=0.5–0.5
Age of onset
n=1; median=19; range=19–19
Age of diagnosis
Not available
Platelet count
n=1; median=22; range=22–22

Variant fields

mut_syn_HGVS
c.415-10G>A
nt_change
G>A
n_bp
1
g_numb
g16
aa_syn
p.Gly139Valfs*17
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205, 214, 226

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
156 231 332 214 cTTP compound_heterozygous Japan female <19 unknown <0.5 22 unknown unknown unknown
163 231 332 226 cTTP compound_heterozygous Japan female unknown unknown <0.5 unknown no unknown unknown