chr17:31265317:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,592,335-29,592,335 View the variant detail on this assembly version.
hg38 chr17:31,265,317-31,265,317

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.4750A>G NP_000258.1:p.Ile1584Val
NM_001042492.2:c.4813A>G NP_001035957.1:p.Ile1605Val
Ensemble ENST00000356175.7:c.4750A>G ENST00000356175.7:p.Ile1584Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2021-03-03 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Uncertain significance 2022-03-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-11-05 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline unknown Detail
Benign no assertion criteria provided not specified germline Detail
Uncertain significance 2023-10-16 criteria provided, single submitter juvenile myelomonocytic leukemia unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... UNIPROT 10712197 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND not specified ClinVar Detail
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND Juvenile myelomonocytic leukemia ClinVar Detail
More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... 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
rs199474766 dbSNP
Genome
hg38
Position
chr17:31,265,317-31,265,317
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser