chr12:121432080:C>G Detail (hg19) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,432,080-121,432,080
hg38 chr12:120,994,277-120,994,277 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.827C>G NP_000536.5:p.Ala276Gly
NM_001306179.1:c.827C>G NP_001293108.1:p.Ala276Gly
Ensemble ENST00000541395.5:c.827C>G ENST00000541395.5:p.Ala276Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 tgv47500382 TogoVar
COSMIC COSM6005773 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-01-06 criteria provided, multiple submitters, no conflicts maturity-onset diabetes of the young type 3 germline unknown Detail
Likely pathogenic 2023-04-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2022-05-03 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.827C>G (p.Ala276Gly) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) 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
rs137853245 dbSNP
Genome
hg19
Position
chr12:121,432,080-121,432,080
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
181.23
Standard deviation of sample read depth (HGVD)
84.92
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1356492969396195E-4
Gene Symbol (HGVD)
HNF1A
Genome browser