Variant detail

mut_id 247 · c.988-2A>C

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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

Point Splicing
HGVS
c.988-2A>C
rsID
rs1554787761
GRCh38 coordinate
133432586
Location
intron 8
gnomAD AF
0.00000386
Domain
Not available
Gene
ADAMTS13

External links

dbSNP gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations
Authors: Kim HY, Lee KO, Yoo KH, Kim SH, Oh D, Kim HJ.
Source: Br J Haematol (2016)
Citation: Br J Haematol. 2016 Apr;173(1):156-9. doi: 10.1111/bjh.13564. Epub 2015 Jun 18.
PubMed: 26085195 · DOI: 10.1111/bjh.13564

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
France (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=22; range=22–22
Age of diagnosis
n=1; median=22; range=22–22
Platelet count
n=1; median=17; range=17–17

Variant fields

mut_syn_HGVS
c.988-2A>C
cdna_numb_HGVS
988
cdna_numb_legacy
988
nt_change
A>C
n_bp
1
nuc_numb
988
g_numb
g16
coordinate_GRCh38
133432586
gnomAD_AC
6
gnomAD_AN
1550986
gnomAD_AF
0.00000386
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 103

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
57 247 278 103 cTTP compound_heterozygous France female 22 22 <5 17 yes pregnancy unknown