chr17:29422099:C>G Detail (hg19) (NF1, MIR4733HG, LOC111811965)

Information

Genome

Assembly Position
hg19 chr17:29,422,099-29,422,099
hg38 chr17:31,095,081-31,095,081 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001042492.2:c.-229C>G
NM_000267.3:c.-229C>G
NM_001128147.2:c.-229C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv57487759 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-01-13 criteria provided, single submitter Café-au-lait macules with pulmonary stenosis germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter neurofibromatosis-Noonan syndrome germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Neurofibromatosis, familial spinal germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.-229C>G AND Café-au-lait macules with pulmonary stenosis ClinVar Detail
NM_001042492.3(NF1):c.-229C>G AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.-229C>G AND Neurofibromatosis-Noonan syndrome ClinVar Detail
NM_001042492.3(NF1):c.-229C>G AND Neurofibromatosis, familial spinal ClinVar 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
rs886052789 dbSNP
Genome
hg19
Position
chr17:29,422,099-29,422,099
Variant Type
snv
Reference Allele
C
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs886052789
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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