chr11:47469631:G>T Detail (hg19) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,469,631-47,469,631
hg38 chr11:47,448,079-47,448,079 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.264C>A NP_005046.2:p.Asn88Lys
NM_032645.4:c.264C>A NP_116034.2:p.Asn88Lys
Ensemble ENST00000298854.7:c.264C>A ENST00000298854.7:p.Asn88Lys
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 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
COSMIC COSM3765567 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-01-17 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 4C germline Detail
Pathogenic Likely pathogenic 2023-03-29 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11 germline inherited maternal unknown Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-02-01 criteria provided, single submitter congenital myasthenic syndrome germline Detail
Likely pathogenic 2018-03-05 criteria provided, single submitter Fetal akinesia deformation sequence 1 inherited Detail
Likely pathogenic 2015-05-05 criteria provided, single submitter myopathy unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline unknown Detail
Pathogenic 2021-12-13 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-10-31 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
0.020 Myasthenic Syndromes, Congenital The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European pa... BeFree 12796535 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Congenital myasthenic syndrome 4C ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Congenital myasthenic syndrome 11 ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND not provided ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Congenital myasthenic syndrome ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Fetal akinesia deformation sequence 1 ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Myopathy ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Inborn genetic diseases ClinVar Detail
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) AND Fetal akinesia deformation sequence 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European patients. 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
rs104894299 dbSNP
Genome
hg19
Position
chr11:47,469,631-47,469,631
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8638
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)
120660
Allele Counts in All Race (ExAC)
192
Heterozygous Counts in All Race (ExAC)
192
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0015912481352560915
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