chr2:241531163:T>C Detail (hg19) (CAPN10)

Information

Genome

Assembly Position
hg19 chr2:241,531,163-241,531,163
hg38 chr2:240,591,746-240,591,746 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_023085.3:c.471-187T>C
NM_023083.3:c.471-187T>C
Ensemble ENST00000270364.11:c.273+2272T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.085
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 605286 OMIM
HGNC 1477 HGNC
Ensembl ENSG00000142330 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11110834 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2003-11-01 no assertion criteria provided Polycystic ovary syndrome, susceptibility to germline Detail
risk factor 2003-11-01 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.341 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Using MGA, some common gene variants were found to have little (<5%) but sign... BeFree 24993573 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_023083.4(CAPN10):c.471-187T>C AND Polycystic ovary syndrome, susceptibility to ClinVar Detail
NM_023083.4(CAPN10):c.471-187T>C AND Type 2 diabetes mellitus 1, susceptibility to ClinVar Detail
Using MGA, some common gene variants were found to have little (<5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (<5%) but significant impact on th... DisGeNET Detail
Using MGA, some common gene variants were found to have little (<5%) but significant impact on th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2975760 dbSNP
Genome
hg19
Position
chr2:241,531,163-241,531,163
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2975760
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0851
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1427
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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