chr12:120997588:C>T Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,435,391-121,435,391 View the variant detail on this assembly version.
hg38 chr12:120,997,588-120,997,588

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.1424C>T NP_000536.5:p.Pro475Leu
NM_001306179.1:c.1424C>T NP_001293108.1:p.Pro475Leu
Ensemble ENST00000257555.11:c.1424C>T ENST00000257555.11:p.Pro475Leu
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 Conflicting classifications of pathogenicity
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 tgv47500686 TogoVar
COSMIC COSM3457110 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-03-09 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2020-01-22 criteria provided, single submitter Monogenic diabetes germline Detail
Uncertain significance 2021-01-20 criteria provided, single submitter Maturity onset diabetes mellitus in young germline Detail
Uncertain significance 2023-09-26 criteria provided, single submitter not specified 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.1424C>T (p.Pro475Leu) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) AND Monogenic diabetes ClinVar Detail
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) AND not specified 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
rs193922580 dbSNP
Genome
hg38
Position
chr12:120,997,588-120,997,588
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs193922580
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))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8534
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)
117136
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.414834039065701E-5
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