chr12:120996698:T>C Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,434,501-121,434,501 View the variant detail on this assembly version.
hg38 chr12:120,996,698-120,996,698

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.1265T>C NP_000536.5:p.Leu422Pro
NM_001306179.1:c.1265T>C NP_001293108.1:p.Leu422Pro
Ensemble ENST00000257555.11:c.1265T>C ENST00000257555.11:p.Leu422Pro
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 Uncertain significance
Review star
Show details
Links
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2021-12-31 reviewed by expert panel Monogenic diabetes germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) AND Monogenic diabetes 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
rs193922577 dbSNP
Genome
hg38
Position
chr12:120,996,698-120,996,698
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1576753878212549E-4
Chromosome Counts in All Race (ExAC)
120556
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)
8.294900295298451E-6
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