chr11:2182066:G>A Detail (hg19) (INS, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,182,066-2,182,066
hg38 chr11:2,160,836-2,160,836 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001185098.1:c.136C>T NP_001172027.1:p.Arg46Ter
NM_001291897.1:c.136C>T NP_001278826.1:p.Arg46Ter
NM_000207.2:c.136C>T NP_000198.1:p.Arg46Ter
Type Transcript Protein
RefSeq NM_001042376.2:c.136C>T NP_001035835.1:p.Arg46Ter
Ensemble ENST00000397270.1:c.136C>T ENST00000397270.1:p.Arg46Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176730 OMIM
HGNC 6081 HGNC
Ensembl ENSG00000254647 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352868 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33527 HGNC
Ensembl ENSG00000129965 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352868 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-02-13 criteria provided, single submitter INS-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000207.3(INS):c.136C>T (p.Arg46Ter) AND INS-related disorder ClinVar 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
hg19
Position
chr11:2,182,066-2,182,066
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1225892123
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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