chr12:120999607:G>A Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,437,410-121,437,410 View the variant detail on this assembly version.
hg38 chr12:120,999,607-120,999,607

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.1748G>A NP_000536.5:p.Arg583Gln
NM_001306179.1:c.1748G>A NP_001293108.1:p.Arg583Gln
Ensemble ENST00000257555.11:c.1748G>A ENST00000257555.11:p.Arg583Gln
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 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 tgv381591664 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
no classifications from unflagged records 2023-11-02 no classifications from unflagged records maturity-onset diabetes of the young type 3 germline Detail
Likely benign 2020-11-18 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-06 criteria provided, conflicting interpretations not provided germline Detail
Likely benign 2016-10-27 criteria provided, single submitter Maturity onset diabetes mellitus in young germline Detail
Uncertain significance 2021-12-29 criteria provided, single submitter type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2021-12-29 criteria provided, single submitter type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2021-12-29 criteria provided, single submitter type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2021-12-29 criteria provided, single submitter type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2024-02-08 criteria provided, single submitter HNF1A-related disorder 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.1748G>A (p.Arg583Gln) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND not specified ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND HNF1A-related disorder 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
rs137853242 dbSNP
Genome
hg38
Position
chr12:120,999,607-120,999,607
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8292
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)
111100
Allele Counts in All Race (ExAC)
56
Heterozygous Counts in All Race (ExAC)
56
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.040504050405041E-4
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