chr15:42409369:A> Detail (hg38) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,701,567-42,701,567 
hg38 chr15:42,409,369-42,409,369

HGVS

Type Transcript Protein
RefSeq NM_173089.1:c.-15delA
NM_173087.1:c.1705delA NP_775110.1:p.Ile569Ter
NM_024344.1:c.1963delA NP_077320.1:p.Ile655Ter
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
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic 2019-09-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-30 criteria provided, single submitter Muscular dystrophy, limb-girdle, autosomal dominant 4 unknown 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.1981del (p.Gln660_Ile661insTer) AND Autosomal recessive limb-girdle muscular dy... ClinVar Detail
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) AND not provided ClinVar Detail
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) AND Muscular dystrophy, limb-girdle, autosomal ... 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
rs762471207 dbSNP
Genome
hg38
Position
chr15:42,409,369-42,409,369
Variant Type
snv
Reference Allele
A
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8630
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)
120620
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.290499088045101E-6
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