DROSHA p.Asp626Asn (p.D626N) Detail (hg19) (DROSHA)

Information

Genome

Assembly Position
hg19 chr5:31,486,636-31,486,636
hg38 chr5:31,486,529-31,486,529 

HGVS

Type Transcript Protein
RefSeq NM_001100412.1:c.1765G>A NP_001093882.1:p.Asp589Asn
NM_013235.4:c.1876G>A NP_037367.3:p.Asp626Asn
Ensemble ENST00000344624.8:c.1876G>A ENST00000344624.8:p.Asp626Asn
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608828 OMIM
HGNC 17904 HGNC
Ensembl ENSG00000113360 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2018/05/15 stomach neoplasms somatic MGS000017
(TMGS000034) 		Kohei Miyazono Tokyo University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr5:31,486,636-31,486,636
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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