RGD:155267471 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:155267471 -  Homo sapiens

RGD ID: 155267471
ClinVar ID: CV1693051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,052,864
GRCh38 20 44,424,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178850.3:c.1099G>T
LRG_483:g.73424G>T
NG_009818.1:g.73424G>T
NP_001274113.1:p.Asp342Tyr
More... 		08/02/2022 missense variant pathogenic Diabetes mellitus MODY type 1; HNF4A-Related Maturity-Onset Diabetes of the Young Type 1; MILD JUVENILE DIABETES MELLITUS; MODY HNF4A related; MODY type 1; MODY, type I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF4A
Accession:XM_047440138
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMSTPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:XM_047440136
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001287183
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDWGQGFPQDPPDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVD
KDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIA
DVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVS
IRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQ
SITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPRPRG
QAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001287182
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDWGQGFPQDPPDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVD
KDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIA
DVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVS
IRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQ
SITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMSTPETPQP
SPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:XM_047440135
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001258355
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILLPLRLARLRHPLRHHWSISGGVDSSPQGDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRS
VRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITS
PVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGN
DYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQ
YDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANT
MPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001287184
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDWGQGFPQDPPDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVD
KDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIA
DVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVS
IRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQ
SITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGPCQAQEGRGWSGDSPGDRPHTVSSPLSSLASPLCRFGQVA*

Gene Symbol:HNF4A
Accession:NM_178849
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMSTPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_178850
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGPCQAQEGRGWSGDSPGDRPHTVS
SPLSSLASPLCRFGQVA*

Gene Symbol:HNF4A
Accession:NM_175914
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVNAPLGAPVESSYDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQC
VVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIA
SIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMS
RVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLP
TLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPR
PRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_000457
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001030004
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVNAPLGAPVESSYDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQC
VVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIA
SIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMS
RVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLP
TLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGPCQAQEGRGWSGDSPGDRPHTVSSPLSSLASPLCRFGQVA*

Gene Symbol:HNF4A
Accession:XM_047440137
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001030003
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVNAPLGAPVESSYDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQC
VVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIA
SIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMS
RVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLP
TLQSITWQMIEQIQFIKLFGMAKIYNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMSTPET
PQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:36257325  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002285536 CLINVAR
MedGen C1852093 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 125850 CLINVAR
  600281 CLINVAR