chr15:42702808:CA> Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,702,808-42,702,809
hg38 chr15:42,410,610-42,410,611 

HGVS

Type Transcript Protein
RefSeq NM_173089.1:c.212_213delCA NP_775112.1:p.Thr71ArgfsTer28
NM_173088.1:c.671_672delCA NP_775111.1:p.Thr224ArgfsTer28
NM_024344.1:c.2189_2190delCA NP_077320.1:p.Thr730ArgfsTer28
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 114240 OMIM
HGNC 1480 HGNC
Ensembl ENSG00000092529 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Limb-girdle muscular dystrophy type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs587780289 dbSNP
Genome
hg19
Position
chr15:42,702,808-42,702,809
Variant Type
snv
Reference Allele
CA
Alternative Allele
-
Genome browser