chr9:136297779:C>T Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,297,779-136,297,779
hg38 chr9:133,432,658-133,432,658 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.965C>T NP_620595.1:p.Pro322Leu
NM_139025.4:c.1058C>T NP_620594.1:p.Pro353Leu
NM_139027.4:c.1058C>T NP_620596.2:p.Pro353Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604134 OMIM
HGNC 1366 HGNC
Ensembl ENSG00000160323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-04-28 criteria provided, single submitter not provided germline not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.453 Congenital Thrombotic Thrombocytopenic Purpura Severely deficient activity of the von Willebrand Factor (VWF) cleaving metallop... UNIPROT 16807643 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) AND not provided ClinVar Detail
Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, i... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281875338 dbSNP
Genome
hg19
Position
chr9:136,297,779-136,297,779
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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