chr17:29586092:GAA> Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,586,092-29,586,094
hg38 chr17:31,259,074-31,259,076 

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.4375_4377delGAA NP_001035957.1:p.Glu1459del
NM_000267.3:c.4312_4314delGAA NP_000258.1:p.Glu1438del
Ensemble ENST00000358273.9:c.4375_4377delGAA ENST00000358273.9:p.Glu1459del
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 613113 OMIM
HGNC 7765 HGNC
Ensembl ENSG00000196712 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 colon, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 neurofibromatosis-Noonan syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA 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
rs267606607 dbSNP
Genome
hg19
Position
chr17:29,586,092-29,586,094
Variant Type
snv
Reference Allele
GAA
Alternative Allele
-
Genome browser