RGD:14698606 Rat Genome Database

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Variant: RGD:14698606 -  Homo sapiens

RGD ID: 14698606
RS ID: rs1582181247
ClinVar ID: CV622978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR1C  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 43,487,543
GRCh38 6 43,519,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.43519805G>C
NC_000006.11:g.43487543G>C
NP_976035.1:p.Ala117Pro
NG_028283.3:g.15104G>C
More... 		missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLR1C
Accession:XM_047419577
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHPDPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAAVAHTC
NPSTLGGQGEWITGSRERDHPG*

Gene Symbol:POLR1C
Accession:NM_203290
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHPDPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDV
LVSEAIKVLMGKCRRFLDELDAVQMD*

Gene Symbol:POLR1C
Accession:NM_001363658
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHPDPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYI*

Gene Symbol:POLR1C
Accession:NM_001318876
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHPDPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAAVAHTC
NPSTLGG*GGWITRSGDRDHPG*
Variant Samples
Additional References at PubMed
PMID:610060   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000788024 CLINVAR
dbSNP (RS) rs1582181247 CLINVAR
MedGen C4225305 CLINVAR
NCBI Gene POLR1C CLINVAR
OMIM 610060 CLINVAR
  616494 CLINVAR