chr12:121438844:T>C Detail (hg19) (HNF1A, C12orf43)

Information

Genome

Assembly Position
hg19 chr12:121,438,844-121,438,844
hg38 chr12:121,001,041-121,001,041 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001286192.1:c.*3112A>G
NM_001286198.1:c.*3112A>G
NM_022895.2:c.*3112A>G
Type Transcript Protein
RefSeq NM_000545.6:c.1769-24T>C
NM_001306179.1:c.1769-24T>C
Ensemble ENST00000541395.5:c.1862-24T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.550
ToMMo:0.545
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.498

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 25719 HGNC
Ensembl ENSG00000157895 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47500941 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 142410 OMIM
HGNC 11621 HGNC
Ensembl ENSG00000135100 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47500941 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.009 Inflammation NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NM_022895.3(C12orf43):c.*3112A>G AND not provided 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
rs735396 dbSNP
Genome
hg19
Position
chr12:121,438,844-121,438,844
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
834
Mean of sample read depth (HGVD)
67.79
Standard deviation of sample read depth (HGVD)
32.94
Number of reference allele (HGVD)
751
Number of alternative allele (HGVD)
917
Allele Frequency (HGVD)
0.5497601918465228
Gene Symbol (HGVD)
HNF1A
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))
rs735396
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5452
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9137
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8578
East Asian Allele Counts (ExAC)
4274
East Asian Heterozygous Counts (ExAC)
2162
East Asian Homozygous Counts (ExAC)
1056
East Asian Allele Frequency (ExAC)
0.4982513406388436
Chromosome Counts in All Race (ExAC)
119714
Allele Counts in All Race (ExAC)
46498
Heterozygous Counts in All Race (ExAC)
27364
Homozygous Counts in All Race (ExAC)
9567
Allele Frequency in All Race (ExAC)
0.38840904154902517
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