RGD:11619570 Rat Genome Database

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Variant: RGD:11619570 -  Homo sapiens

RGD ID: 11619570
RS ID: rs17031944
ClinVar ID: CV328831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYCP3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 102,133,233
GRCh38 12 101,739,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021181.1:g.5015T>A
NC_000012.12:g.101739455A>T
NC_000012.11:g.102133233A>T
NM_001177949.2:c.-122T>A
More... 		01/13/2018 5 prime utr variant benign|likely benign Arrest of spermatogenesis; AZOOSPERMIA WITH MATURATION ARREST; PREGNANCY LOSS 4; Spermatogenesis arrest
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYCP3
Accession:XM_005268922
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:XM_005268926
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:XM_047428913
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:NM_001177949
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:XM_005268927
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:NM_153694
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:NM_001177948
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:XM_011538421
Location:5UTRS;EXON

Gene Symbol:SYCP3
Accession:XM_005268924
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326968 CLINVAR
dbSNP (RS) rs17031944 CLINVAR
MedGen C0232981 CLINVAR
NCBI Gene SYCP3 CLINVAR
OMIM 270960 CLINVAR
  604759 CLINVAR