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NM_000545.8(HNF1A):c.788G>A (p.Arg263His) AND Maturity-onset diabetes of the young type 3

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003319352.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.788G>A (p.Arg263His)]

NM_000545.8(HNF1A):c.788G>A (p.Arg263His)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
Other names:
NM_000545.8(HNF1A):c.788G>A; p.Arg263His
HGVS:
  • NC_000012.12:g.120994238G>A
  • NG_011731.2:g.20493G>A
  • NM_000545.8:c.788G>AMANE SELECT
  • NM_001306179.2:c.788G>A
  • NP_000536.6:p.Arg263His
  • NP_001293108.2:p.Arg263His
  • LRG_522t1:c.788G>A
  • LRG_522:g.20493G>A
  • NC_000012.11:g.121432041G>A
  • NM_000545.5:c.788G>A
Protein change:
R263H
Links:
dbSNP: rs1057520504
NCBI 1000 Genomes Browser:
rs1057520504
Molecular consequence:
  • NM_000545.8:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 3
Synonyms:
Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004024127Genomics And Bioinformatics Analysis Resource, Columbia University
no assertion criteria provided
Pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genomics And Bioinformatics Analysis Resource, Columbia University, SCV004024127.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024