Genomic variant #0000000502

Chromosome 12
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121437091G>A
Published as -
GERP 4.110
Segregation -
DB-ID HNF1A_000001
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HNF1A NM_000545.5 ?/? c.1522G>A p.(Glu508Lys) missense_variant - 8/10 possibly_damaging(0.646) r.(?) deleterious(0.01)


ClinVar @ MSeqDR

0.00044
139383
Human Phenotype Ontology:HP:0005978,MedGen:C0011860,OMIM:125853,Orphanet:ORPHA181376,SNOMED CT:44054006|MedGen:CN169374
Diabetes mellitus type 2|not specified
HGVS variant names NC 000012.11:g.121437091G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. HNF1A:6927
SO:0001583|missense variant
1
dbSNP ID 483353044
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
CM08284112121437091121437091HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available