chr17:31259039:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,586,057-29,586,057 View the variant detail on this assembly version.
hg38 chr17:31,259,039-31,259,039

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.4277A>G NP_000258.1:p.Gln1426Arg
NM_001042492.2:c.4340A>G NP_001035957.1:p.Gln1447Arg
Ensemble ENST00000356175.7:c.4277A>G ENST00000356175.7:p.Gln1426Arg
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 2024-01-19 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Pathogenic 2022-11-15 criteria provided, single submitter juvenile myelomonocytic leukemia unknown 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.4340A>G (p.Gln1447Arg) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) AND Juvenile myelomonocytic leukemia 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
rs786204157 dbSNP
Genome
hg38
Position
chr17:31,259,039-31,259,039
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser