chr17:29550523:GA> Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,550,523-29,550,524
hg38 chr17:31,223,505-31,223,506 

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.1783_1784delGA NP_001035957.1:p.Glu595AsnfsTer14
NM_000267.3:c.1783_1784delGA NP_000258.1:p.Glu595AsnfsTer14
Ensemble ENST00000696138.1:c.1828_1829delGA ENST00000696138.1:p.Glu610AsnfsTer14
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 2023-11-17 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Pathogenic 2019-01-18 criteria provided, single submitter not specified 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.1783_1784del (p.Glu595fs) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) AND not specified 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
rs786204059 dbSNP
Genome
hg19
Position
chr17:29,550,523-29,550,524
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
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