chr12:120978860:G>C Detail (hg38) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,416,663-121,416,663 View the variant detail on this assembly version.
hg38 chr12:120,978,860-120,978,860

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.92G>C NP_000536.5:p.Gly31Ala
NM_001306179.1:c.92G>C NP_001293108.1:p.Gly31Ala
Ensemble ENST00000257555.11:c.92G>C ENST00000257555.11:p.Gly31Ala
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
0.120 Conventional (Clear Cell) Renal Cell Carcinoma NA CLINVAR Detail
0.120 chromophobe renal cell carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET 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
rs137853247 dbSNP
Genome
hg38
Position
chr12:120,978,860-120,978,860
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser