RGD:14704908 Rat Genome Database

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Variant: RGD:14704908 -  Homo sapiens

RGD ID: 14704908
RS ID: rs759717253
ClinVar ID: CV654702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1A  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 121,437,142
GRCh38 12 120,999,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.120999339A>T
NM_000545.5:c.1573A>T
p.Thr525Ser
NM_000545.8:c.1573A>T
More... 		10/01/2022 missense variant uncertain significance AllHighlyPenetrant; Diabetes mellitus MODY type 1; Diabetes mellitus MODY type 3; Diabetes mellitus, insulin-dependent, 20; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; HEPATIC ADENOMA, SOMATIC; Hepatic adenomas, familial; HNF4A-Related Maturity-Onset Diabetes of the Young Type 1; LIVER CELL ADENOMAS, FAMILIAL; Maturity-onset diabetes of the young type 3; MILD JUVENILE DIABETES MELLITUS; MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY HNF4A related; MODY type 1; MODY, type I; MODY, type III; none provided; Nonpapillary renal cell carcinoma; Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Type I diabetes mellitus; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:NM_000545
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLISDTTNLSALASLTPTKQVFTSDTEASSESGLHTPAS
QATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ*

Gene Symbol:HNF1A
Accession:NM_001306179
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLISDTTNLSALASLTPTKQEAALLPQVFTSDTEASSES
GLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ*

Gene Symbol:HNF1A
Accession:NM_001406915
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 461
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIALYSHKPEVAQYTHTGLLPQTMLISDTTNLSALASLTPTKQVFT
SDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFIST
QMASSSQ*

Gene Symbol:HNF1A
Accession:XM_024449168
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLISDTTNLSALASLTPTKQVRSRPAGPPLACDRAPHPH
IPRAQEAALLPQVFTSDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSH
LLPSNHSVIETFISTQMASSSQ*
Variant Samples
Additional References at PubMed
PMID:18003757   PMID:20393147   PMID:23348805   PMID:24033266   PMID:25741868   PMID:28492532   PMID:33046911  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000825937 CLINVAR
  RCV001248995 CLINVAR
  RCV001527412 CLINVAR
  RCV002495193 CLINVAR
  RCV002538236 CLINVAR
dbSNP (RS) rs759717253 CLINVAR
MedGen C0011854 CLINVAR
  C1838100 CLINVAR
  C1852093 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene HNF1A CLINVAR
OMIM 125850 CLINVAR
  125853 CLINVAR
  142330 CLINVAR
  142410 CLINVAR
  144700 CLINVAR
  222100 CLINVAR
  600496 CLINVAR
  612520 CLINVAR
SNOMED CT 46635009 CLINVAR