Variant detail

mut_id 298 · c.915C>A · p.Tyr305Ter

Back Advanced search Full table

Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Residue 305
HGVS
c.915C>A
Protein change
p.Tyr305Ter
rsID
rs1840627224
GRCh38 coordinate
133430029
Location
exon 8
gnomAD AF
0.00000815
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP gnomAD

References

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796

Interactive AlphaFold structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 305 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.915C>A
cdna_numb_HGVS
915
cdna_numb_legacy
915
nt_change
C>A
n_bp
1
nuc_numb
915
g_numb
g16
aa_numb_HGVS
305
aa_numb_legacy
305
aa_first
Tyr
aa_last
Ter
aa_syn
p.Tyr305Ter
codon_first
TAC
codon_last
TAA
coordinate_GRCh38
133430029
gnomAD_AC
13
gnomAD_AN
1593666
gnomAD_AF
0.00000815
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72, 332

Patients linked by mut_id

No linked patients found.