RGD:25319041 Rat Genome Database

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Variant: RGD:25319041 -  Homo sapiens

RGD ID: 25319041
RS ID: rs1602070594
ClinVar ID: CV816511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PORCN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,369,876
GRCh38 X 48,511,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022825.4:c.329+1G>A
NM_203473.3:c.329+1G>A
NM_203474.1:c.329+1G>A
NM_203475.3:c.329+1G>A
More... 		02/05/2020 splice donor variant likely pathogenic Goltz Gorlin Syndrome; Goltz Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PORCN
Accession:NM_203475
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442367
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442364
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442370
Location:INTRON

Gene Symbol:PORCN
Accession:NM_001282167
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442358
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442360
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442366
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442363
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442371
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442368
Location:INTRON

Gene Symbol:PORCN
Accession:NM_203474
Location:INTRON

Gene Symbol:PORCN
Accession:NM_022825
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442369
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442362
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442361
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442372
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442365
Location:INTRON

Gene Symbol:PORCN
Accession:NM_203473
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442373
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442359
Location:INTRON

Gene Symbol:PORCN
Accession:XM_047442357
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001028047 CLINVAR
dbSNP (RS) rs1602070594 CLINVAR
MedGen C0016395 CLINVAR
NCBI Gene PORCN CLINVAR
OMIM 300651 CLINVAR
  305600 CLINVAR