RGD:11624913 Rat Genome Database

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Variant: RGD:11624913 -  Homo sapiens

RGD ID: 11624913
RS ID: rs906418
ClinVar ID: CV337926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPATA22  TRPV3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,417,123
GRCh38 17 3,513,829
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032144.2:g.49167G>A
NC_000017.11:g.3513829C>T
NC_000017.10:g.3417123C>T
NM_001258205.2:c.*88G>A
More... 		06/19/2021 3 prime utr variant benign infancy <1 / 1 000 000 none provided; Palmoplantar keratoderma, nonepidermolytic, focal 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRPV3
Accession:NM_145068
Location:3UTRS;EXON

Gene Symbol:TRPV3
Accession:NM_001258205
Location:3UTRS;EXON

Gene Symbol:SPATA22
Accession:NM_001321336
Location:5UTRS;EXON

Gene Symbol:SPATA22
Accession:NM_001321337
Location:5UTRS;EXON

Gene Symbol:SPATA22
Accession:NM_001170698
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170697
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_032598
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170695
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170696
Location:INTRON

Gene Symbol:SPATA22
Accession:NM_001170699
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000392046 CLINVAR
  RCV001653571 CLINVAR
dbSNP (RS) rs906418 CLINVAR
MedGen C3661900 CLINVAR
  C4225339 CLINVAR
NCBI Gene SPATA22 CLINVAR
  TRPV3 CLINVAR
OMIM 607066 CLINVAR
  616400 CLINVAR
  617673 CLINVAR