chr17:31223464:T>C Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,550,482-29,550,482 View the variant detail on this assembly version.
hg38 chr17:31,223,464-31,223,464

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.1742T>C NP_000258.1:p.Ile581Thr
NM_001042492.2:c.1742T>C NP_001035957.1:p.Ile581Thr
Ensemble ENST00000356175.7:c.1742T>C ENST00000356175.7:p.Ile581Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided not provided not provided 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.1742T>C (p.Ile581Thr) AND not provided 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
rs199474759 dbSNP
Genome
hg38
Position
chr17:31,223,464-31,223,464
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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