RGD:21071074 Rat Genome Database

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Variant: RGD:21071074 -  Homo sapiens

RGD ID: 21071074
RS ID: rs1375975527
ClinVar ID: CV794323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPEF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 35,692,670
GRCh38 5 35,692,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024867.4:c.1745-2A>G
NC_000005.10:g.35692568A>G
NC_000005.9:g.35692670A>G
01/27/2020 splice acceptor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPEF2
Accession:NM_024867
Location:INTRON

Gene Symbol:SPEF2
Accession:NM_144722
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_005248376
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_005248377
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_005248378
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514140
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514135
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514138
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514136
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514139
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_011514137
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_017009880
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_017009882
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_024446219
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417767
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417768
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417769
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417770
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417765
Location:INTRON

Gene Symbol:SPEF2
Accession:XM_047417766
Location:INTRON

Gene Symbol:SPEF2
Accession:XR_925655
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:31151990  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000993860 CLINVAR
dbSNP (RS) rs1375975527 CLINVAR
MedGen C5231490 CLINVAR
NCBI Gene SPEF2 CLINVAR
OMIM 610172 CLINVAR
  618751 CLINVAR
OMIM Allele 610172.0002 CLINVAR