RGD:11590285 Rat Genome Database

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Variant: RGD:11590285 -  Homo sapiens

RGD ID: 11590285
RS ID: rs1046224
ClinVar ID: CV303773
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIFR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 38,475,507
GRCh38 5 38,475,405
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_011817.1:g.125001C>T
NC_000005.10:g.38475405G>A
NC_000005.9:g.38475507G>A
NM_001364297.2:c.*6190C>T
More... 		06/14/2016 3 prime utr variant benign neonatal <1 / 1 000 000 Neonatal Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome neonatal; Schwartz-Jampel syndrome type 2; Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome; Stüve-Wiedemann syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LIFR
Accession:NM_001364297
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:NM_001364298
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:XM_017009463
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:NM_001127671
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:XM_011514042
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:NM_002310
Location:3UTRS;EXON

Gene Symbol:LIFR
Accession:XM_047417172
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000317607 CLINVAR
dbSNP (RS) rs1046224 CLINVAR
MedGen C0796176 CLINVAR
NCBI Gene LIFR CLINVAR
OMIM 151443 CLINVAR
  601559 CLINVAR