RGD:156435657 Rat Genome Database

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Variant: RGD:156435657 -  Homo sapiens

RGD ID: 156435657
ClinVar ID: CV2402843
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C10orf67  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 23,508,437
GRCh38 10 23,219,508
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.23508437A>G
NM_001365862.2:c.1573+4090T>C
NC_000010.11:g.23219508A>G
NM_001371909.1:c.1570+4090T>C
02/12/2023 intron variant pathogenic PANCREATIC HYPOPLASIA, CONGENITAL 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C10orf67
Accession:XM_047424970
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519443
Location:INTRON

Gene Symbol:C10orf67
Accession:NM_001371909
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_047424968
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519442
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519445
Location:INTRON

Gene Symbol:C10orf67
Accession:NM_153714
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519446
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_017016031
Location:INTRON

Gene Symbol:C10orf67
Accession:NM_001365862
Location:INTRON

Gene Symbol:C10orf67
Accession:NM_001351306
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519440
Location:INTRON

Gene Symbol:C10orf67
Accession:XM_011519441
Location:INTRON

Gene Symbol:C10orf67
Accession:XR_930487
Location:INTRON;NON-CODING

Gene Symbol:C10orf67
Accession:XR_930488
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003126284 CLINVAR
MedGen C4014737 CLINVAR
NCBI Gene 387642 CLINVAR
  C10orf67 CLINVAR
OMIM 615935 CLINVAR