chr11:47448165:G>A Detail (hg38) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,469,717-47,469,717 View the variant detail on this assembly version.
hg38 chr11:47,448,165-47,448,165

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.193-15C>T
NM_032645.4:c.193-15C>T
Ensemble ENST00000298854.7:c.193-15C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.018
ToMMo:0.019
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.034

Prediction

ClinVar

Clinical Significance Benign
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 tgv42457372 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-11 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-07-10 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11 germline Detail
Benign 2018-03-06 criteria provided, single submitter Fetal akinesia deformation sequence 1 germline Detail
Benign 2020-09-16 no assertion criteria provided congenital myasthenic syndrome germline Detail
Benign 2021-07-10 criteria provided, single submitter Fetal akinesia deformation sequence 2 germline Detail
Benign 2024-02-01 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Benign 2024-02-01 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline 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.193-15C>T AND not specified ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND Congenital myasthenic syndrome 11 ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND Fetal akinesia deformation sequence 1 ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND Congenital myasthenic syndrome ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND Fetal akinesia deformation sequence 2 ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.193-15C>T AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs45547231 dbSNP
Genome
hg38
Position
chr11:47,448,165-47,448,165
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
826
Mean of sample read depth (HGVD)
25.72
Standard deviation of sample read depth (HGVD)
12.69
Number of reference allele (HGVD)
1623
Number of alternative allele (HGVD)
29
Allele Frequency (HGVD)
0.017554479418886198
Gene Symbol (HGVD)
RAPSN
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))
rs45547231
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.019
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
318
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8318
East Asian Allele Counts (ExAC)
279
East Asian Heterozygous Counts (ExAC)
275
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.03354171675883626
Chromosome Counts in All Race (ExAC)
115732
Allele Counts in All Race (ExAC)
13149
Heterozygous Counts in All Race (ExAC)
11575
Homozygous Counts in All Race (ExAC)
787
Allele Frequency in All Race (ExAC)
0.11361594027580962
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