chr19:12943814:>TTGTC Detail (hg38) (CALR)

Information

Genome

Assembly Position
hg19 chr19:13,054,628-13,054,628 
hg38 chr19:12,943,814-12,943,814

HGVS

Type Transcript Protein
RefSeq NM_004343.3:c.1154_1155insTTGTC NP_004334.1:p.Lys385AsnfsTer47
Ensemble ENST00000316448.10:c.1154_1155insTTGTC ENST00000316448.10:p.Lys385AsnfsTer47
ENST00000586760.2:c.1097+57_1097+58insTTGTC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 109091 OMIM
HGNC 1455 HGNC
Ensembl ENSG00000179218 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61277073 TogoVar
COSMIC COSM1738056 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-03-24 criteria provided, single submitter Thrombocythemia 1 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) AND Thrombocythemia 1 ClinVar 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
rs765476509 dbSNP
Genome
hg38
Position
chr19:12,943,814-12,943,814
Variant Type
snv
Reference Allele
-
Alternative Allele
TTGTC
East Asian Chromosome Counts (ExAC)
3150
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
52290
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.649646203863071E-5
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