chr12:120999606:C>G Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,437,409-121,437,409 View the variant detail on this assembly version.
hg38 chr12:120,999,606-120,999,606

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.1747C>G NP_000536.5:p.Arg583Gly
NM_001306179.1:c.1747C>G NP_001293108.1:p.Arg583Gly
Ensemble ENST00000257555.11:c.1747C>G ENST00000257555.11:p.Arg583Gly
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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:[No Data.]

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 tgv47500882 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-10-01 no assertion criteria provided type 1 diabetes mellitus 20 germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter maturity-onset diabetes of the young type 3 germline Detail
Uncertain significance 2022-08-24 criteria provided, single submitter not provided 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
0.360 DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) AND Type 1 diabetes mellitus 20 ClinVar Detail
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) AND not provided ClinVar Detail
NA DisGeNET 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
rs137853239 dbSNP
Genome
hg38
Position
chr12:120,999,606-120,999,606
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs137853239
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
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