NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) AND not specified

Clinical significance:Benign (Last evaluated: Feb 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001288507.1

Allele description [Variation Report for NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)]

NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
HGVS:
  • NC_000017.11:g.37733586C>G
  • NG_013019.2:g.16521G>C
  • NM_000458.4:c.780G>CMANE SELECT
  • NM_001165923.4:c.702G>C
  • NM_001304286.2:c.702G>C
  • NP_000449.1:p.Glu260Asp
  • NP_001159395.1:p.Glu234Asp
  • NP_001291215.1:p.Glu234Asp
  • NC_000017.10:g.36093579C>G
  • NM_000458.2:c.780G>C
  • NM_000458.3:c.780G>C
Protein change:
E234D
Links:
Molecular consequence:
  • NM_000458.4:c.780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.702G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.702G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001475670Athena Diagnostics Inccriteria provided, single submitter
Benign
(Feb 13, 2020)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations.

Wang C, Zhang R, Lu J, Jiang F, Hu C, Zhou J, Liu F, Zhang F, Qin W, Li M, Ma X, Yan J, Bao Y, Xiang K, Jia W.

Diabetes Res Clin Pract. 2012 Jan;95(1):119-24. doi: 10.1016/j.diabres.2011.10.007. Epub 2011 Nov 1.

PubMed [citation]
PMID:
22051731

Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

So WY, Ng MC, Horikawa Y, Njølstad PR, Li JK, Ma RC, Bell GI, Chan JC.

J Diabetes Complications. 2003 Nov-Dec;17(6):369-73.

PubMed [citation]
PMID:
14583183
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001475670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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