chr17:31330459:G>T Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,657,477-29,657,477 View the variant detail on this assembly version.
hg38 chr17:31,330,459-31,330,459

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.5710G>T NP_000258.1:p.Glu1904Ter
NM_001042492.2:c.5773G>T NP_001035957.1:p.Glu1925Ter
Ensemble ENST00000356175.7:c.5710G>T ENST00000356175.7:p.Glu1904Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-12-01 no assertion criteria provided Neurofibromatosis, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter) AND Neurofibromatosis, type 1 ClinVar Detail
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
rs137854565 dbSNP
Genome
hg38
Position
chr17:31,330,459-31,330,459
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser