rs2112571693 Rat Genome Database

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Variant: rs2112571693 -  Homo sapiens

RGD ID: 28903098
RS ID: rs2112571693
ClinVar ID: CV894369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LIFR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 38,530,768
GRCh38 5 38,530,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127671.2:c.-19G>C
NM_002310.6:c.-19G>C
NG_011817.1:g.69740G>C
NC_000005.10:g.38530666C>G
More... 		01/12/2018 5 prime utr variant uncertain significance 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:XM_017009463
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:NM_002310
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:NM_001127671
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:XM_011514042
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:NM_001364298
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:NM_001364297
Location:5UTRS;INTRON

Gene Symbol:LIFR
Accession:XM_047417172
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001157405 CLINVAR
dbSNP (RS) rs2112571693 CLINVAR
MedGen C0796176 CLINVAR
NCBI Gene LIFR CLINVAR
OMIM 151443 CLINVAR
  601559 CLINVAR