RGD:12742996 Rat Genome Database

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Variant: RGD:12742996 -  Homo sapiens

RGD ID: 12742996
RS ID: rs1057519233
ClinVar ID: CV361641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLPP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 6,366,311
GRCh38 19 6,366,300
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033887.1:g.9849A>G
NC_000019.10:g.6366300A>G
NC_000019.9:g.6366311A>G
NP_006003.1:p.Lys200Glu
More... 		07/31/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLPP
Accession:XM_047439486
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPGILVGGARVASCRYPALGPRLAAHFPAQRPPQRTLQNGLALQRCLHATATRALPLIPIVVEQTVRRPGGDTVRGLRA
GWGSAGCPGPSPPSFYPQGRGERAYDIYSRLLRERIVCVMGPIDDSVASLVIAQLLFLQSESNKKPIHMYINSPGGVVTA
GLAIYDTMQYILNPICTWCVGQAASMGSLLLAAGTPGMRHSLPNSRIMIHQPSGGARGQATDIAIQAEEIMELKKQLYNI
YAKHTKQSLQVIESAMERDRYMSPMEAQEFGILDKVLVHPPQDGEDEPTLVQKEPVEAAPAAEPVPAST*

Gene Symbol:CLPP
Accession:NM_006012
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPGILVGGARVASCRYPALGPRLAAHFPAQRPPQRTLQNGLALQRCLHATATRALPLIPIVVEQTGRGERAYDIYSRLL
RERIVCVMGPIDDSVASLVIAQLLFLQSESNKKPIHMYINSPGGVVTAGLAIYDTMQYILNPICTWCVGQAASMGSLLLA
AGTPGMRHSLPNSRIMIHQPSGGARGQATDIAIQAEEIMELKKQLYNIYAKHTKQSLQVIESAMERDRYMSPMEAQEFGI
LDKVLVHPPQDGEDEPTLVQKEPVEAAPAAEPVPAST*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000415857 CLINVAR
dbSNP (RS) rs1057519233 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CLPP CLINVAR
OMIM 601119 CLINVAR