RGD:405683852 Rat Genome Database

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Variant: RGD:405683852 -  Homo sapiens

RGD ID: 405683852
ClinVar ID: CV3293898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIPC  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 77,580,425
GRCh38 14 77,114,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_033426.3:c.964G>C
NC_000014.9:g.77114082G>C
NC_000014.8:g.77580425G>C
NM_033426.2:c.964G>C
More... 		10/04/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:CIPC
Accession:NM_033426
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERKNPSRESPRRLSAKVGKGTEMKKVARQLGMAAAESDKDSGFSDGSSECLSSAEQMESEDMLSALGWSREDRPRQNSK
TAKNAFPTLSPMVVMKNVLVKQGSSSSQLQSWTVQPSFEVISAQPQLLFLHPPVPSPVSPCHTGEKKSDSRNYLPILNSY
TKIAPHPGKRGLSLGPEEKGTSGVQKKICTERLGPSLSSSEPTKAGAVPSSPSTPAPPSAKLAEDSALQGVPSLVAGGSP
QTLQPVSSSHVAKAPSLTFASPASPVCASDSTLHGLESNSPLSPLSANYSSPLWAAEHLCRSPDIFSEQRQSKHRRFQNT
LLVLHKSGLLEITLKTKELIRQNQATQVELDQLKEQTQLFIEATKSRAPQAWAKLQASLTPGSSNTGSDLEAFSDHPAI*
.


Database
Acc Id
Source(s)
ClinVar RCV004443958 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CIPC CLINVAR
OMIM 616995 CLINVAR