RGD:155903298 Rat Genome Database

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Variant: RGD:155903298 -  Homo sapiens

RGD ID: 155903298
ClinVar ID: CV2353557
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCOLCE  PCOLCE-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,201,082
GRCh38 7 100,603,459
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002593.4:c.125A>T
NG_111912.1:g.88A>T
NC_000007.14:g.100603459A>T
NC_000007.13:g.100201082A>T
More... 		10/26/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PCOLCE
Accession:NM_002593
Location:EXON
Amino Acid Prediction: K to M (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPAATASLLGPLLTACALLPFAQGQTPNYTRPVFLCGGDVMGESGYVASEGFPNLYPPNKECIWTITVPEGQTVSLSFR
VFDLELHPACRYDALEVFAGSGTSGQRLGRFCGTFRPAPLVAPGNQVTLRMTTDEGTGGRGFLLWYSGRATSGTEHQFCG
GRLEKAQGTLTTPNWPESDYPPGISCSWHIIAPPDQVIALTFEKFDLEPDTYCRYDSVSVFNGAVSDDSRRLGKFCGDAV
PGSISSEGNELLVQFVSDLSVTADGFSASYKTLPRGTAKEGQGPGPKRGTEPKVKLPPKSQPPEKTEESPSAPDAPTCPK
QCRRTGTLQSNFCASSLVVTATVKSMVREPGEGLAVTVSLIGAYKTGGLDLPSPPTGASLKFYVPCKQCPPMKKGVSYLL
MGQVEENRGPVLPPESFVVLHRPNQDQILTNLSKRKCPSQPVRAAASQD*

Gene Symbol:PCOLCE-AS1
Accession:NR_038910
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004199539 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCOLCE CLINVAR
  PCOLCE-AS1 CLINVAR
OMIM 600270 CLINVAR