chr11:47449174:T>C Detail (hg38) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,470,726-47,470,726 View the variant detail on this assembly version.
hg38 chr11:47,449,174-47,449,174

HGVS

[No Data.]
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2020-09-02 no assertion criteria provided congenital myasthenic syndrome 11 germline Detail
Pathogenic 2020-09-16 no assertion criteria provided congenital myasthenic syndrome germline Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline unknown Detail
Likely pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic 2021-11-29 criteria provided, single submitter Fetal akinesia deformation sequence 2,congenital myasthenic syndrome 11 unknown Detail
Pathogenic 2021-11-29 criteria provided, single submitter Fetal akinesia deformation sequence 2,congenital myasthenic syndrome 11 unknown Detail
Pathogenic 2023-10-28 criteria provided, single submitter Fetal akinesia deformation sequence 2 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.-210A>G AND Congenital myasthenic syndrome 11 ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND Congenital myasthenic syndrome ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND Abnormality of the musculature ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.-210A>G AND Fetal akinesia deformation sequence 2 ClinVar Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs786200905 dbSNP
Genome
hg38
Position
chr11:47,449,174-47,449,174
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs786200905
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
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