RGD:11650354 Rat Genome Database

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Variant: RGD:11650354 -  Homo sapiens

RGD ID: 11650354
RS ID: rs886060621
ClinVar ID: CV304267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIFR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 38,480,395
GRCh38 5 38,480,293
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
NM_002310.6:c.*1302T>G
NM_002310.5:c.*1302T>G
NG_011817.1:g.120113T>G
NC_000005.10:g.38480293A>C
More... 		06/14/2016 3 prime utr variant uncertain significance 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_002310
Location:3UTRS;EXON

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

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

Gene Symbol:LIFR
Accession:NM_001364297
Location:3UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292183 CLINVAR
dbSNP (RS) rs886060621 CLINVAR
MedGen C0796176 CLINVAR
NCBI Gene LIFR CLINVAR
OMIM 151443 CLINVAR
  601559 CLINVAR