Variant detail

mut_id 175 · c.1245-3C>T

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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 Splicing Conflicting classifications of pathogenicity
HGVS
c.1245-3C>T
rsID
rs36219902
ClinVar ID
365543
GRCh38 coordinate
133433638
Location
intron 10
gnomAD AF
0.001695
Domain
Not available
Gene
ADAMTS13

External links

dbSNP ClinVar 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

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

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1245-3C>T
cdna_numb_HGVS
1245
cdna_numb_legacy
1245
nt_change
C>T
n_bp
1
nuc_numb
1245
g_numb
g16
coordinate_GRCh38
133433638
gnomAD_AC
2736
gnomAD_AN
1614036
gnomAD_AF
0.001695
clinvar_id
365543
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7

Patients linked by mut_id

No linked patients found.