chr11:47441675:A>G Detail (hg38) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,463,227-47,463,227 View the variant detail on this assembly version.
hg38 chr11:47,441,675-47,441,675

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.848T>C NP_005046.2:p.Leu283Pro
NM_032645.4:c.789+148T>C
Ensemble ENST00000298854.7:c.848T>C ENST00000298854.7:p.Leu283Pro
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 Conflicting classifications of pathogenicity
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-10-10 no assertion criteria provided congenital myasthenic syndrome 11 germline Detail
Conflicting interpretations of pathogenicity 2020-01-03 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2019-11-01 criteria provided, single submitter Global developmental delay germline Detail
Uncertain significance 2018-11-24 criteria provided, single submitter Fetal akinesia deformation sequence 1 paternal Detail
Likely pathogenic 2020-06-29 criteria provided, single submitter RAPSN-related disorder germline Detail
Uncertain significance 2022-02-08 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Uncertain significance 2022-02-08 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Likely pathogenic 2023-10-23 criteria provided, single submitter Fetal akinesia deformation sequence 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY NA CLINVAR Detail
0.120 MYASTHENIC SYNDROME, CONGENITAL, Ie NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND Congenital myasthenic syndrome 11 ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND not provided ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND Global developmental delay ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND Fetal akinesia deformation sequence 1 ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND RAPSN-related disorder ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) AND Fetal akinesia deformation sequence 2 ClinVar Detail
NA DisGeNET 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
rs104894293 dbSNP
Genome
hg38
Position
chr11:47,441,675-47,441,675
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8430
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)
113706
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)
4.3973053312929836E-5
Genome browser