chr17:29559860:CTCA> Detail (hg19) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,559,860-29,559,863
hg38 chr17:31,232,842-31,232,845 

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.3457_3460delCTCA NP_001035957.1:p.Leu1153MetfsTer4
NM_000267.3:c.3457_3460delCTCA NP_000258.1:p.Leu1153MetfsTer4
Ensemble ENST00000358273.9:c.3457_3460delCTCA ENST00000358273.9:p.Leu1153MetfsTer4
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 COSM220107 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-01-03 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Pathogenic 2022-08-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-12-13 criteria provided, single submitter germline Detail
Pathogenic 2022-12-02 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2024-02-28 criteria provided, single submitter NF1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) AND NF1-related disorder ClinVar Detail
NA DisGeNET 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
rs1321848637 dbSNP
Genome
hg19
Position
chr17:29,559,860-29,559,863
Variant Type
snv
Reference Allele
CTCA
Alternative Allele
-
Genome browser