RGD:151890118 Rat Genome Database

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Variant: RGD:151890118 -  Homo sapiens

RGD ID: 151890118
RS ID: rs202073574
ClinVar ID: CV1447898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,057,110
GRCh38 20 44,428,470
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287182.2:c.1177+13G>A
NM_001030003.3:c.1186+13G>A
NM_001287183.2:c.1190G>A
NM_175914.5:c.1199G>A
More... 		07/30/2023 intron variant likely benign|uncertain significance Diabetes mellitus MODY type 1; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; FRTS4 WITH MODY; HNF4A-Related Maturity-Onset Diabetes of the Young Type 1; MILD JUVENILE DIABETES MELLITUS; MODY HNF4A related; MODY type 1; MODY, type I; none provided; Type 2 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:HNF4A
Accession:NM_001287183
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 397
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDWGQGFPQDPPDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVD
KDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIA
DVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVS
IRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQ
SITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPQPRG
QAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:XM_047440135
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPQPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:XM_047440136
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPQPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001258355
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILLPLRLARLRHPLRHHWSISGGVDSSPQGDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRS
VRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITS
PVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGN
DYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQ
YDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANT
MPTHLSNGQMCEWPQPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_000457
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPQPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_175914
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVNAPLGAPVESSYDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQC
VVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIA
SIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMS
RVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLP
TLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPQ
PRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:XM_047440137
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGC
KGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEV
LSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFK
DVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLE
DYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGT
NVIVANTMPTHLSNGQMCEWPQPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI*

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178849
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001942956 CLINVAR
  RCV002490264 CLINVAR
  RCV003318509 CLINVAR
dbSNP (RS) rs202073574 CLINVAR
MedGen C1852093 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 125850 CLINVAR
  125853 CLINVAR
  600281 CLINVAR
  616026 CLINVAR
SNOMED CT 44054006 CLINVAR