rs3810725 Rat Genome Database

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Variant: rs3810725 -  Homo sapiens

RGD ID: 150470241
RS ID: rs3810725
ClinVar ID: CV1219208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGSF1  LOC127898304  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 130,412,411
GRCh38 X 131,278,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_840t1:c.2056+24G>A
LRG_840t2:c.2041+24G>A
NM_001170962.2:c.2014+24G>A
NM_001555.5:c.2041+24G>A
More... 		08/10/2021 intron variant benign Hypothyroidism, central, and testicular enlargement; HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGSF1
Accession:NM_001170961
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_011531334
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_047442086
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_011531333
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_047442088
Location:INTRON

Gene Symbol:IGSF1
Accession:NM_001555
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_047442085
Location:INTRON

Gene Symbol:IGSF1
Accession:NM_205833
Location:INTRON

Gene Symbol:IGSF1
Accession:NM_001170963
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_011531330
Location:INTRON

Gene Symbol:IGSF1
Accession:NM_001170962
Location:INTRON

Gene Symbol:IGSF1
Accession:XM_047442087
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001614960 CLINVAR
  RCV001729962 CLINVAR
dbSNP (RS) rs3810725 CLINVAR
MedGen C3550963 CLINVAR
  C3661900 CLINVAR
NCBI Gene IGSF1 CLINVAR
OMIM 300137 CLINVAR
  300888 CLINVAR