chr17:31327719:G>A Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,654,737-29,654,737 View the variant detail on this assembly version.
hg38 chr17:31,327,719-31,327,719

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.5426G>A NP_000258.1:p.Arg1809His
NM_001042492.2:c.5489G>A NP_001035957.1:p.Arg1830His
Ensemble ENST00000356175.7:c.5426G>A ENST00000356175.7:p.Arg1809His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations Neurofibromatosis, type 1 germline Detail
Uncertain significance 2020-12-11 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-11-16 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-06-22 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.5489G>A (p.Arg1830His) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) 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
rs771529172 dbSNP
Genome
hg38
Position
chr17:31,327,719-31,327,719
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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