RGD:8564538 Rat Genome Database

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Variant: RGD:8564538 -  Homo sapiens

RGD ID: 8564538
RS ID: rs137853237
ClinVar ID: CV29969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 121,426,674
GRCh38 12 120,988,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_522:g.15126A>G
NG_011731.2:g.15126A>G
NC_000012.12:g.120988871A>G
NC_000012.11:g.121426674A>G
More... 		08/19/2021 missense|missense variant pathogenic|likely pathogenic adolescent|adulthood|childhood rare. 18% approximately of mody patients have mutations in hnf1a. Diabetes mellitus MODY type 3; Mason type diabetes; MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY, type III; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:NM_001306179
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSCLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQEAALLPQVFTSDTEASSES
GLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ*

Gene Symbol:HNF1A
Accession:NM_001406915
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSCLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVFT
SDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFIST
QMASSSQ*

Gene Symbol:HNF1A
Accession:NM_000545
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSCLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVFTSDTEASSESGLHTPAS
QATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ*

Gene Symbol:HNF1A
Accession:XM_024449168
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGED
FTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSCLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRA
ALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGV
RYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQP
QNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVRSRPAGPPLACDRAPHPH
IPRAQEAALLPQVFTSDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSH
LLPSNHSVIETFISTQMASSSQ*
Variant Samples
Additional References at PubMed
PMID:9097962   PMID:22413961   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016067 CLINVAR
  RCV001384610 CLINVAR
  RCV001794449 CLINVAR
  RCV002464065 CLINVAR
dbSNP (RS) rs137853237 CLINVAR
MedGen C0342276 CLINVAR
  C1838100 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
NCBI Gene HNF1A CLINVAR
OMIM 142410 CLINVAR
  600496 CLINVAR
  606391 CLINVAR
OMIM Allele 142410.0004 CLINVAR
SNOMED CT 28453007 CLINVAR