chr11:47448832:C>T Detail (hg38) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,470,384-47,470,384 View the variant detail on this assembly version.
hg38 chr11:47,448,832-47,448,832

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.133G>A NP_005046.2:p.Val45Met
NM_032645.4:c.133G>A NP_116034.2:p.Val45Met
Ensemble ENST00000298854.7:c.133G>A ENST00000298854.7:p.Val45Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601592 OMIM
HGNC 9863 HGNC
Ensembl ENSG00000165917 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42457429 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-02-02 criteria provided, single submitter congenital myasthenic syndrome 11 germline Detail
Pathogenic 2023-11-28 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Pathogenic 2023-11-28 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Pathogenic Likely pathogenic 2021-04-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2020-09-16 no assertion criteria provided congenital myasthenic syndrome germline Detail
Likely pathogenic 2022-05-11 criteria provided, single submitter Fetal akinesia deformation sequence 2,congenital myasthenic syndrome 11 unknown Detail
Likely pathogenic 2022-05-11 criteria provided, single submitter Fetal akinesia deformation sequence 2,congenital myasthenic syndrome 11 unknown Detail
Likely pathogenic 2023-10-02 criteria provided, single submitter Fetal akinesia deformation sequence 2 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 MYASTHENIC SYNDROME, CONGENITAL, Ie NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND Congenital myasthenic syndrome 11 ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND not provided ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND Congenital myasthenic syndrome ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) AND Fetal akinesia deformation sequence 2 ClinVar Detail
NA 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
rs121909254 dbSNP
Genome
hg38
Position
chr11:47,448,832-47,448,832
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs121909254
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8644
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)
121090
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.129160128829796E-5
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