RGD:28904851 Rat Genome Database

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Variant: RGD:28904851 -  Homo sapiens

RGD ID: 28904851
RS ID: rs866312688
ClinVar ID: CV895890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHFPL5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 35,791,173
GRCh38 6 35,823,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182548.4:c.*431C>T
NG_012184.2:g.23103C>T
NC_000006.12:g.35823396C>T
NC_000006.11:g.35791173C>T
More... 		09/24/2021 3 prime utr variant uncertain significance Deafness, autosomal recessive 67
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHFPL5
Accession:NM_182548
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001158172 CLINVAR
dbSNP (RS) rs866312688 CLINVAR
MedGen C1853223 CLINVAR
NCBI Gene LHFPL5 CLINVAR
OMIM 609427 CLINVAR
  610265 CLINVAR