Variant detail

mut_id 174 · c.1244+2T>G

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point Splicing
HGVS
c.1244+2T>G
Location
intron 10
Domain
Not available
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]
Authors: Schiphorst RH, van de Kar NC, van den Heuvel LP.
Source: Ned Tijdschr Geneeskd (2003)
Citation: Ned Tijdschr Geneeskd. 2003 Dec 6;147(49):2422-4.
PubMed: 14694551
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

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
male (2)
Pregnancy-related
unknown (1); no (1)
Triggers
unknown (1); none (1)
Treatment
unknown (1); PI (1)
ADAMTS13 activity
n=2; median=1.75; range=0.5–3
Age of onset
n=2; median=3; range=1–5
Age of diagnosis
n=1; median=2; range=2–2
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1244+2T>G
nt_change
T>G
n_bp
1
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 179, 205, 214

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
142 174 279 214 cTTP compound_heterozygous Japan male <5 unknown <0.5 unknown unknown unknown unknown
272 174 279 179 cTTP compound_heterozygous Japan male <1 2 <3 unknown no none PI