RGD:407456502 Rat Genome Database

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Variant: RGD:407456502 -  Homo sapiens

RGD ID: 407456502
ClinVar ID: CV3419189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIPC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,580,206
GRCh38 14 77,113,863
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_219494.2:p.Ser249Gly
NM_033426.3:c.745A>G
NC_000014.9:g.77113863A>G
NC_000014.8:g.77580206A>G
More... 		03/25/2024 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:CIPC
Accession:NM_033426
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERKNPSRESPRRLSAKVGKGTEMKKVARQLGMAAAESDKDSGFSDGSSECLSSAEQMESEDMLSALGWSREDRPRQNSK
TAKNAFPTLSPMVVMKNVLVKQGSSSSQLQSWTVQPSFEVISAQPQLLFLHPPVPSPVSPCHTGEKKSDSRNYLPILNSY
TKIAPHPGKRGLSLGPEEKGTSGVQKKICTERLGPSLSSSEPTKAGAVPSSPSTPAPPSAKLAEDSALQGVPSLVAGGSP
QTLQPVSSGHVAKAPSLTFASPASPVCASDSTLHGLESNSPLSPLSANYSSPLWAAEHLCRSPDIFSEQRQSKHRRFQNT
LVVLHKSGLLEITLKTKELIRQNQATQVELDQLKEQTQLFIEATKSRAPQAWAKLQASLTPGSSNTGSDLEAFSDHPAI*
.


Database
Acc Id
Source(s)
ClinVar RCV004610749 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CIPC CLINVAR
OMIM 616995 CLINVAR