chr12:120989024:TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG> Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,426,827-121,426,872 
hg38 chr12:120,989,024-120,989,069

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG NP_000536.5:p.Val173_Gln176delinsGlu
NM_001306179.1:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG NP_001293108.1:p.Val173_Gln176delinsGlu
Ensemble ENST00000257555.11:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG ENST00000257555.11:p.Val173_Gln176delinsGlu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-08-18 criteria provided, single submitter maturity-onset diabetes of the young type 3 germline Detail
Likely pathogenic 2022-04-20 reviewed by expert panel Monogenic diabetes germline Detail
Likely risk allele criteria provided, single submitter Maturity onset diabetes mellitus in young unknown 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.518_526+37del AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.518_526+37del AND Monogenic diabetes ClinVar Detail
NM_000545.8(HNF1A):c.518_526+37del AND Maturity onset diabetes mellitus in young 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
rs386134267 dbSNP
Genome
hg38
Position
chr12:120,989,024-120,989,069
Variant Type
snv
Reference Allele
TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG
Alternative Allele
-
Genome browser