chr17:31258500:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,585,518-29,585,518 View the variant detail on this assembly version.
hg38 chr17:31,258,500-31,258,500

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.4267A>G NP_000258.1:p.Lys1423Glu
NM_001042492.2:c.4330A>G NP_001035957.1:p.Lys1444Glu
Ensemble ENST00000356175.7:c.4267A>G ENST00000356175.7:p.Lys1423Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 COSM24576 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-24 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline inherited unknown Detail
Pathogenic 2021-11-03 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter neurofibroma,Cafe au lait spots, multiple unknown Detail
Pathogenic 2017-01-01 criteria provided, single submitter neurofibroma,Cafe au lait spots, multiple unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Neurofibromatosis, type 1,juvenile myelomonocytic leukemia,Neurofibromatosis, familial spinal,Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome unknown Detail
Pathogenic 2022-09-14 criteria provided, single submitter pheochromocytoma somatic Detail
Pathogenic 2021-12-17 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-02-12 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 neurofibromatosis-Noonan syndrome NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. UNIPROT 11857752 Detail
0.670 neurofibromatosis 1 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. UNIPROT 11857752 Detail
0.670 neurofibromatosis 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND Pheochromocytoma ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) AND Juvenile myelomonocytic leukemia ClinVar Detail
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. DisGeNET Detail
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. 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
rs137854550 dbSNP
Genome
hg38
Position
chr17:31,258,500-31,258,500
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8354
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119078
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.39785686692756E-6
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