RGD:407482412 Rat Genome Database

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Variant: RGD:407482412 -  Homo sapiens

RGD ID: 407482412
ClinVar ID: CV3421976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLL2  PTCHD1-AS  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 22,291,451
GRCh38 X 22,273,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152577.4:c.343A>T
NG_021438.1:g.5392A>T
NC_000023.11:g.22273334A>T
NC_000023.10:g.22291451A>T
More... 		05/26/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CBLL2
Accession:NM_152577
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKMPAGEQECEYNKEGKYYSKGVKLVRKKKKIPGYRWGDIKINIIGEKDDLPIHFCDKCDLPIKIYGRIIPCKHAFCYH
CANLYDKVGYKVCPRCRYPVLRIEAHKRGSVFMCCIVQQCKRTYLSQKSLQAHIKRRHKRARKQVTSASLEKVRPHIAPP
QTEISDIPKRLQDRDHLSYIPPEQHTMVSLPSVQHMLQEQHNQPHKDIQAPPPELSLSLPFPIQWETVSIFTRKHGNLTV
DHIQNNSDSGAKKPTPPDYYPECQSQPAVSSPHHIIPQKQHYAPPPSPSSPVNHQMPYPPQDVVTPNSVRSQVPALTTTY
DPSSGYIIVKVPPDMNSPPLRAPQSQNGNPSASEFASHHYNLNILPQFTENQETLSPQFTQTDAMDHRRWPAWKRLSPCP
PTRSPPPSTLHGRSHHSHQRRHRRY*

Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004602676 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CBLL2 CLINVAR
  PTCHD1-AS CLINVAR