RGD:11612522 Rat Genome Database

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Variant: RGD:11612522 -  Homo sapiens

RGD ID: 11612522
RS ID: rs759832566
ClinVar ID: CV341817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LITAF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 11,641,640
GRCh38 16 11,547,784
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004862.3:c.*1853A>G
LRG_253t1:c.*1978A>G
NM_001136473.1:c.*1978A>G
LRG_253:g.44167A>G
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Charcot-Marie-Tooth disease, demyelinating, Type 1C; Charcot-Marie-Tooth disease, type IC; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C; CMT 1C; CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LITAF
Accession:XM_047434928
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_011522754
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_047434929
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:NM_001136472
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_006720983
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:NM_001136473
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_006720982
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_047434927
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_047434926
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:XM_006720984
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:NM_004862
Location:3UTRS;EXON

Gene Symbol:LITAF
Accession:NR_024320
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260395 CLINVAR
dbSNP (RS) rs759832566 CLINVAR
MedGen C0270913 CLINVAR
NCBI Gene LITAF CLINVAR
OMIM 601098 CLINVAR
  603795 CLINVAR
SNOMED CT 4183003 CLINVAR