chr22:31008882:G>A Detail (hg19) (TCN2)

Information

Genome

Assembly Position
hg19 chr22:31,008,882-31,008,882
hg38 chr22:30,612,895-30,612,895 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000355.3:c.280G>A NP_000346.2:p.Gly94Ser
NM_001184726.1:c.280G>A NP_001171655.1:p.Gly94Ser
Ensemble ENST00000215838.8:c.280G>A ENST00000215838.8:p.Gly94Ser
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:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613441 OMIM
HGNC 11653 HGNC
Ensembl ENSG00000185339 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65702899 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-08-15 criteria provided, single submitter not specified germline Detail
Likely benign 2023-12-01 criteria provided, single submitter not provided germline Detail
Benign Likely benign 2024-01-30 criteria provided, multiple submitters, no conflicts transcobalamin II deficiency germline Detail
Benign 2019-07-01 criteria provided, single submitter TCN2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, i... BeFree 12194912 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) AND not specified ClinVar Detail
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) AND not provided ClinVar Detail
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) AND Transcobalamin II deficiency ClinVar Detail
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) AND TCN2-related disorder ClinVar Detail
We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, in the TC gene as pos... 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
rs11557600 dbSNP
Genome
hg19
Position
chr22:31,008,882-31,008,882
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))
rs11557600
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))
16760
East Asian Chromosome Counts (ExAC)
8624
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)
120836
Allele Counts in All Race (ExAC)
242
Heterozygous Counts in All Race (ExAC)
242
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0020027144228541164
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