RGD:12858865 Rat Genome Database

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Variant: RGD:12858865 -  Homo sapiens

RGD ID: 12858865
RS ID: rs1060499810
ClinVar ID: CV389224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHFPL5  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 35,773,448
GRCh38 6 35,805,671
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000006.12:g.35805671A>G
NC_000006.11:g.35773448A>G
NP_872354.1:p.Met1Val
NM_182548.3:c.1A>G
More... 		08/01/2020 initiatior codon variant|initiator_codon_variant|missense variant pathogenic|likely pathogenic infancy Deafness, autosomal recessive 67
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHFPL5
Accession:NM_182548
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCVGNVLSSELICK
GGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRM
CGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV*
Variant Samples
Additional References at PubMed
PMID:32747562  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454165 CLINVAR
dbSNP (RS) rs1060499810 CLINVAR
MedGen C1853223 CLINVAR
NCBI Gene LHFPL5 CLINVAR
OMIM 609427 CLINVAR
  610265 CLINVAR