RGD:405181315 Rat Genome Database

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Variant: RGD:405181315 -  Homo sapiens

RGD ID: 405181315
ClinVar ID: CV2914144
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124905038  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,949,676
GRCh38 21 44,529,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.586+5G>C
NM_144991.3:c.790+5G>C
NG_033806.2:g.186779G>C
NG_033806.1:g.186786G>C
More... 		09/19/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LOC124905038
Accession:XR_007067905
Location:EXON;NON-CODING

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003563996 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR