chr12:121416864:C>T Detail (hg19) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,416,864-121,416,864
hg38 chr12:120,979,061-120,979,061 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.293C>T NP_000536.5:p.Ala98Val
NM_001306179.1:c.293C>T NP_001293108.1:p.Ala98Val
Ensemble ENST00000400024.6:c.293C>T ENST00000400024.6:p.Ala98Val
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 Benign Likely benign
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 COSM5020679 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-04-26 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2018-03-06 criteria provided, single submitter maturity-onset diabetes of the young type 3 germline Detail
Benign 2019-02-01 criteria provided, single submitter Monogenic diabetes unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign Likely benign 2018-09-18 criteria provided, multiple submitters, no conflicts Maturity onset diabetes mellitus in young germline somatic Detail
Benign 2022-01-01 criteria provided, single submitter ovarian cancer germline Detail
Benign 2023-07-07 criteria provided, single submitter nonpapillary renal cell carcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Impaired glucose tolerance The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs246419... BeFree 24933231 Detail
0.016 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98... BeFree 15277395 Detail
0.283 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98... BeFree 15277395 Detail
0.329 Diabetes Mellitus, Non-Insulin-Dependent Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98... BeFree 15277395 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND not specified ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND Monogenic diabetes ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND Ovarian cancer ClinVar Detail
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) AND Nonpapillary renal cell carcinoma ClinVar Detail
The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte... DisGeNET Detail
Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have bee... DisGeNET Detail
Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have bee... DisGeNET Detail
Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have bee... 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
rs1800574 dbSNP
Genome
hg19
Position
chr12:121,416,864-121,416,864
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
6632
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.5078407720144752E-4
Chromosome Counts in All Race (ExAC)
89196
Allele Counts in All Race (ExAC)
3275
Heterozygous Counts in All Race (ExAC)
3117
Homozygous Counts in All Race (ExAC)
79
Allele Frequency in All Race (ExAC)
0.036716893134221266
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