RGD:11581595 Rat Genome Database

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Variant: RGD:11581595 -  Homo sapiens

RGD ID: 11581595
RS ID: rs757610907
ClinVar ID: CV278418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,294,168
GRCh38 1 201,325,040
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_023337.1:g.46589G>A
NC_000001.11:g.201325040G>A
NC_000001.10:g.201294168G>A
NP_001005337.1:p.Arg645Lys
More... 		06/14/2016 missense variant uncertain significance infancy Ectodermal dysplasia skin fragility syndrome; Mcgrath syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKP1
Accession:NM_000299
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 666
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNY
GTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLY
CDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTT
NKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDP
EVFFNATGCLRKRLGMRELLALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLH
NLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSK
KDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEV
TRLLTSHTGNTSNSEDILSSACYTVKNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGV
LRQQGFDRNMLGTLAGANSLRNFTSRF*

Gene Symbol:PKP1
Accession:NM_001005337
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 645
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNY
GTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLY
CDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDI
ECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTT
NKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDP
EVFFNATGCLRNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLHNLSYRLDAEVPTRYRQLEYNA
RNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGL
MSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSSA
CYTVKNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLR
NFTSRF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000376879 CLINVAR
  RCV004021411 CLINVAR
dbSNP (RS) rs757610907 CLINVAR
MedGen C0950123 CLINVAR
  C1858302 CLINVAR
NCBI Gene PKP1 CLINVAR
OMIM 601975 CLINVAR
  604536 CLINVAR