chr17:29685622:C>T Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,685,622-29,685,622
hg38 chr17:31,358,604-31,358,604 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.8095C>T NP_001035957.1:p.Gln2699Ter
NM_000267.3:c.8032C>T NP_000258.1:p.Gln2678Ter
Ensemble ENST00000684826.1:c.2659C>T ENST00000684826.1:p.Gln887Ter
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 COSM5945374 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-11-03 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-12-05 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter) AND not provided 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
rs786203443 dbSNP
Genome
hg19
Position
chr17:29,685,622-29,685,622
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser