RGD:14698614 Rat Genome Database

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Variant: RGD:14698614 -  Homo sapiens

RGD ID: 14698614
RS ID: rs751006626
ClinVar ID: CV622984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR1C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 43,488,492
GRCh38 6 43,520,754
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.43520754T>C
NC_000006.11:g.43488492T>C
NM_203290.4:c.785T>C
NG_028283.3:g.16053T>C
More... 		missense variant pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLR1C
Accession:NM_203290
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVTEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDV
LVSEAIKVLMGKCRRFLDELDAVQMD*

Gene Symbol:POLR1C
Accession:NM_001318876
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVTEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAAVAHTC
NPSTLGG*GGWITRSGDRDHPG*

Gene Symbol:POLR1C
Accession:XM_047419577
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVTEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAAVAHTC
NPSTLGGQGEWITGSRERDHPG*

Gene Symbol:POLR1C
Accession:NM_001363658
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRIL
LAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPN
ELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDLLMHCVKGIGKDHAKFSPVATASYRLLPDIT
LLEPVEGEAAEELSRCFSPGVTEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYI*
Variant Samples
Additional References at PubMed
PMID:610060   PMID:22855961   PMID:25741868   PMID:26151409  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000788032 CLINVAR
dbSNP (RS) rs751006626 CLINVAR
MedGen C4225305 CLINVAR
NCBI Gene POLR1C CLINVAR
OMIM 610060 CLINVAR
  616494 CLINVAR