chr11:47448832:C>A Detail (hg38) (RAPSN)

Information

Genome

Assembly Position
hg19 chr11:47,470,384-47,470,384 View the variant detail on this assembly version.
hg38 chr11:47,448,832-47,448,832

HGVS

Type Transcript Protein
RefSeq NM_005055.4:c.133G>T NP_005046.2:p.Val45Leu
NM_032645.4:c.133G>T NP_116034.2:p.Val45Leu
Ensemble ENST00000298854.7:c.133G>T ENST00000298854.7:p.Val45Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-11-13 criteria provided, single submitter congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1 germline Detail
Likely pathogenic 2023-11-13 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.133G>T (p.Val45Leu) AND multiple conditions ClinVar Detail
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu) AND multiple conditions 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
-
Genome
hg38
Position
chr11:47,448,832-47,448,832
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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