chr15:42394306:G>C Detail (hg38) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,686,504-42,686,504 View the variant detail on this assembly version.
hg38 chr15:42,394,306-42,394,306

HGVS

Type Transcript Protein
RefSeq NM_000070.2:c.1080G>C NP_000061.1:p.Trp360Cys
NM_173087.1:c.936G>C NP_775110.1:p.Trp312Cys
NM_024344.1:c.1080G>C NP_077320.1:p.Trp360Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic muscular dystrophy, limb-girdle, autosomal recessive germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-11-01 no assertion criteria provided autosomal recessive limb-girdle muscular dystrophy type 2A germline Detail
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
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) AND Autosomal recessive limb-girdle muscular dystrophy ty... 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
rs267606703 dbSNP
Genome
hg38
Position
chr15:42,394,306-42,394,306
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser