chr17:31232092:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,559,110-29,559,110 View the variant detail on this assembly version.
hg38 chr17:31,232,092-31,232,092

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.3217A>G NP_000258.1:p.Met1073Val
NM_001042492.2:c.3217A>G NP_001035957.1:p.Met1073Val
Ensemble ENST00000356175.7:c.3217A>G ENST00000356175.7:p.Met1073Val
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 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 tgv229730429 TogoVar
COSMIC COSM5749134 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-05-06 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Uncertain significance 2023-12-29 criteria provided, multiple submitters, no conflicts Neurofibromatosis, type 1 germline Detail
Uncertain significance 2021-11-29 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 Automated comparative sequence analysis identifies mutations in 89% of NF1 patie... UNIPROT 15060124 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) AND multiple conditions ClinVar Detail
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a m... 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
rs199474740 dbSNP
Genome
hg38
Position
chr17:31,232,092-31,232,092
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
6260
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)
81348
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4585730442051434E-5
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