View genomic variant #0000000502

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121437091G>A
Published as -
GERP 4.110
Segregation -
DB-ID HNF1A_000001 See all 2 reported entries
MSCV MSCV_0000502
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

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
HNF1A 00003321 NM_000545.5 0000000502 ?/? c.1522G>A p.(Glu508Lys) missense_variant - 8/10 possibly_damaging(0.646) r.(?) deleterious(0.01)
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ClinVar @ MSeqDR

RCVaccession RCV000122743; RCV000517019;
Chromosome 12:121437091..121437091
Allele frequencies from ExAC 0.00044
ClinVar Allele ID 139383
Disease database name and identifier Human Phenotype Ontology:HP:0005978, MedGen:C0011860, OMIM:125853, Orphanet:ORPHA181376, SNOMED CT:44054006|MedGen:CN169374
ClinVar preferred disease name Diabetes mellitus type 2|not specified
HGVS variant names NC 000012.11:g.121437091G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. HNF1A:6927
Molecular consequence SO:0001583|missense variant
Allele origin germline
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