chr17:31230373:T>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,557,391-29,557,391 View the variant detail on this assembly version.
hg38 chr17:31,230,373-31,230,373

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.3104T>G NP_000258.1:p.Met1035Arg
NM_001042492.2:c.3104T>G NP_001035957.1:p.Met1035Arg
Ensemble ENST00000356175.7:c.3104T>G ENST00000356175.7:p.Met1035Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 Likely pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.670 neurofibromatosis 1 NA CLINVAR Detail
0.670 neurofibromatosis 1 LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (N... UNIPROT 8807336 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) AND Neurofibromatosis, type 1 ClinVar Detail
NA DisGeNET Detail
LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). 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
rs137854553 dbSNP
Genome
hg38
Position
chr17:31,230,373-31,230,373
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser