chr11:47463427:G>A Detail (hg19) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,463,427-47,463,427
hg38 chr11:47,441,875-47,441,875 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.737C>T NP_005046.2:p.Ala246Val
NM_032645.4:c.737C>T NP_116034.2:p.Ala246Val
Ensemble ENST00000298854.7:c.737C>T ENST00000298854.7:p.Ala246Val
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:[No Data.]

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 tgv42457061 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Congenital myasthenic syndrome germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-06-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Fetal akinesia deformation sequence 1,congenital myasthenic syndrome 11 germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Fetal akinesia deformation sequence 1,congenital myasthenic syndrome 11 germline Detail
Pathogenic 2023-09-18 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
Annotation

Annotations

DescrptionSourceLinks
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) AND not provided ClinVar Detail
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) 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
rs559933584 dbSNP
Genome
hg19
Position
chr11:47,463,427-47,463,427
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs559933584
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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