chr12:121431462:GAA> Detail (hg19) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,431,462-121,431,464
hg38 chr12:120,993,659-120,993,661 

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.666_668delGAA NP_000536.5:p.Lys222del
NM_001306179.1:c.666_668delGAA NP_001293108.1:p.Lys222del
Ensemble ENST00000544413.2:c.666_668delGAA ENST00000544413.2:p.Lys222del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
rs193922599 dbSNP
Genome
hg19
Position
chr12:121,431,462-121,431,464
Variant Type
snv
Reference Allele
GAA
Alternative Allele
-
Genome browser