chr17:31227536:C>A Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,554,554-29,554,554 View the variant detail on this assembly version.
hg38 chr17:31,227,536-31,227,536

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2339C>A NP_000258.1:p.Thr780Lys
NM_001042492.2:c.2339C>A NP_001035957.1:p.Thr780Lys
Ensemble ENST00000356175.7:c.2339C>A ENST00000356175.7:p.Thr780Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 2017-12-12 criteria provided, single submitter not provided germline not provided Detail
Pathogenic Likely pathogenic 2023-08-17 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Likely pathogenic 2017-03-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline 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.2339C>A (p.Thr780Lys) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) AND multiple conditions 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
rs199474746 dbSNP
Genome
hg38
Position
chr17:31,227,536-31,227,536
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121204
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.250552787036732E-6
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