chr17:31230383:G>T Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,557,401-29,557,401 View the variant detail on this assembly version.
hg38 chr17:31,230,383-31,230,383

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.3113+1G>T
NM_001042492.2:c.3113+1G>T
Ensemble ENST00000356175.7:c.3113+1G>T
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 2023-06-29 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline unknown Detail
Pathogenic 2021-10-22 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 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3113+1G>T AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.3113+1G>T AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267606599 dbSNP
Genome
hg38
Position
chr17:31,230,383-31,230,383
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser