RGD:405673094 Rat Genome Database

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Variant: RGD:405673094 -  Homo sapiens

RGD ID: 405673094
ClinVar ID: CV3293643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHURC1  CHURC1-FNTB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 65,398,905
GRCh38 14 64,932,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204064.2:c.225G>C
NM_001386928.1:c.296G>C
NM_145165.4:c.299G>C
NM_001202559.1:c.327+6107G>C
More... 		02/21/2024 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CHURC1
Accession:NM_001204064
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCGDCVEKEYPNRGNTCLENGSFLLNFTGCAVCSKRDFMLITNKSLKEEDGEEIVTYDRVYHAVSVMRQSRRYYHYSP*

Gene Symbol:CHURC1
Accession:NM_001386928
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCGDCVEKEYPNRGNTCLENGSFLLNFTGCAVCSKRDFMLITNKSLKEEDGEEIVTYDHLCKNCHHVIARHEYTFSIMDE
FQEYTMLCLLCGKAEDTITILPDDPRQMTLLF*

Gene Symbol:CHURC1
Accession:NM_145165
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCGDCVEKEYPNRGNTCLENGSFLLNFTGCAVCSKRDFMLITNKSLKEEDGEEIVTYDPDLCKNCHHVIARHEYTFSIMD
EFQEYTMLCLLCGKAEDTITILPDDPRQMTLLF*

Gene Symbol:CHURC1-FNTB
Accession:NM_001202558
Location:INTRON

Gene Symbol:CHURC1-FNTB
Accession:NM_001202559
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004441719 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CHURC1 CLINVAR
  CHURC1-FNTB CLINVAR
OMIM 608577 CLINVAR