chr17:31259074:GAA> Detail (hg38) (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_000267.3:c.4312_4314delGAA NP_000258.1:p.Glu1438del
NM_001042492.2:c.4375_4377delGAA NP_001035957.1:p.Glu1459del
Ensemble ENST00000356175.7:c.4312_4314delGAA ENST00000356175.7:p.Glu1438del
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
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
hg38
Position
chr17:31,259,074-31,259,076
Variant Type
snv
Reference Allele
GAA
Alternative Allele
-
Genome browser