RGD:405249617 Rat Genome Database

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Variant: RGD:405249617 -  Homo sapiens

RGD ID: 405249617
ClinVar ID: CV2983628
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBR4  PALLD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 169,846,078
GRCh38 4 168,924,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367567.1:c.1053-18C>G
NM_001367569.1:c.1053-18C>G
NM_001367568.1:c.1104-18C>G
NM_001367570.1:c.1104-18C>G
More... 		01/15/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PALLD
Accession:XM_011531775
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531772
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449863
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449868
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001166109
Location:INTRON

Gene Symbol:CBR4
Accession:XM_011532385
Location:INTRON

Gene Symbol:CBR4
Accession:XM_006714391
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531769
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449861
Location:INTRON

Gene Symbol:PALLD
Accession:XM_024453940
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001367570
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001367567
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449862
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449867
Location:INTRON

Gene Symbol:PALLD
Accession:XM_024453939
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531774
Location:INTRON

Gene Symbol:CBR4
Accession:XM_017008783
Location:INTRON

Gene Symbol:CBR4
Accession:NM_032783
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001166108
Location:INTRON

Gene Symbol:CBR4
Accession:XM_017008782
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001367569
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449864
Location:INTRON

Gene Symbol:PALLD
Accession:NM_016081
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531773
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449870
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531768
Location:INTRON

Gene Symbol:CBR4
Accession:XM_047416331
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001367568
Location:INTRON

Gene Symbol:PALLD
Accession:XM_011531771
Location:INTRON

Gene Symbol:CBR4
Accession:XM_011532386
Location:INTRON

Gene Symbol:CBR4
Accession:XM_005263315
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449866
Location:INTRON

Gene Symbol:PALLD
Accession:NM_001166110
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449865
Location:INTRON

Gene Symbol:PALLD
Accession:XM_047449869
Location:INTRON

Gene Symbol:CBR4
Accession:XR_001741341
Location:INTRON;NON-CODING

Gene Symbol:CBR4
Accession:XR_007057980
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003747203 CLINVAR
MedGen C0281361 CLINVAR
NCBI Gene CBR4 CLINVAR
  PALLD CLINVAR
OMIM 608092 CLINVAR
  619394 CLINVAR