chr17:29553535:T>C Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,553,535-29,553,535
hg38 chr17:31,226,517-31,226,517 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.2084T>C NP_001035957.1:p.Leu695Pro
NM_000267.3:c.2084T>C NP_000258.1:p.Leu695Pro
Ensemble ENST00000696138.1:c.2129T>C ENST00000696138.1:p.Leu710Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic 2023-09-06 criteria provided, single submitter not provided germline not provided Detail
Pathogenic Likely pathogenic 2022-03-26 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Likely pathogenic 2022-05-06 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... UNIPROT 10712197 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) AND multiple conditions ClinVar Detail
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... 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
rs199474761 dbSNP
Genome
hg19
Position
chr17:29,553,535-29,553,535
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser