chr17:29496928:TGTT> Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,496,928-29,496,931
hg38 chr17:31,169,910-31,169,913 

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.499_502delTGTT NP_000258.1:p.Cys167GlnfsTer10
NM_001128147.2:c.499_502delTGTT NP_001121619.1:p.Cys167GlnfsTer10
NM_001042492.2:c.499_502delTGTT NP_001035957.1:p.Cys167GlnfsTer10
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 COSM36867 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary 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
rs786201874 dbSNP
Genome
hg19
Position
chr17:29,496,928-29,496,931
Variant Type
snv
Reference Allele
TGTT
Alternative Allele
-
Genome browser